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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 7-121378936-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=121378936&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 121378936,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_014888.3",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "NM_014888.3",
          "protein_id": "NP_055703.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000359943.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014888.3"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000359943.8",
          "protein_id": "ENSP00000353025.3",
          "transcript_support_level": 1,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014888.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359943.8"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000426156.1",
          "protein_id": "ENSP00000414940.1",
          "transcript_support_level": 5,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 108,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 328,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426156.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892193.1",
          "protein_id": "ENSP00000562252.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 244,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 735,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892193.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "NM_001040020.2",
          "protein_id": "NP_001035109.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001040020.2"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000850865.1",
          "protein_id": "ENSP00000520951.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000850865.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892184.1",
          "protein_id": "ENSP00000562243.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892184.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892185.1",
          "protein_id": "ENSP00000562244.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892185.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892187.1",
          "protein_id": "ENSP00000562246.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892187.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892188.1",
          "protein_id": "ENSP00000562247.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892188.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892190.1",
          "protein_id": "ENSP00000562249.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892190.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892192.1",
          "protein_id": "ENSP00000562251.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892192.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892196.1",
          "protein_id": "ENSP00000562255.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892196.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892197.1",
          "protein_id": "ENSP00000562256.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892197.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892198.1",
          "protein_id": "ENSP00000562257.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892198.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892199.1",
          "protein_id": "ENSP00000562258.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892199.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892200.1",
          "protein_id": "ENSP00000562259.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892200.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892201.1",
          "protein_id": "ENSP00000562260.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892201.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000892202.1",
          "protein_id": "ENSP00000562261.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892202.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FAM3C",
          "gene_hgnc_id": 18664,
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr",
          "transcript": "ENST00000951274.1",
          "protein_id": "ENSP00000621333.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951274.1"
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          "feature": "ENST00000892186.1"
        }
      ],
      "gene_symbol": "FAM3C",
      "gene_hgnc_id": 18664,
      "dbsnp": "rs376952658",
      "frequency_reference_population": 0.000017484464,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 27,
      "gnomad_exomes_af": 0.00000502865,
      "gnomad_genomes_af": 0.000131403,
      "gnomad_exomes_ac": 7,
      "gnomad_genomes_ac": 20,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.1871272325515747,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.03999999910593033,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.087,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2501,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.14,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 6.842,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.04,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_014888.3",
          "gene_symbol": "FAM3C",
          "hgnc_id": 18664,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.92T>C",
          "hgvs_p": "p.Met31Thr"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}