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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: 7-2731262-GTC-ATA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2731262&ref=GTC&alt=ATA&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [
            "PP3"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "GNA12",
          "hgnc_id": 4380,
          "hgvs_c": "c.1063_1065delGACinsTAT",
          "hgvs_p": "p.Asp355Tyr",
          "inheritance_mode": "AD",
          "pathogenic_score": 1,
          "score": 1,
          "transcript": "NM_007353.3",
          "verdict": "Uncertain_significance"
        },
        {
          "benign_score": 0,
          "criteria": [
            "PP3"
          ],
          "effects": [
            "3_prime_UTR_variant"
          ],
          "gene_symbol": "AMZ1",
          "hgnc_id": 22231,
          "hgvs_c": "c.*219_*221delGTCinsATA",
          "hgvs_p": null,
          "inheritance_mode": "AR",
          "pathogenic_score": 1,
          "score": 1,
          "transcript": "NM_001384741.1",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP3",
      "acmg_score": 1,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "ATA",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "7",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 381,
          "aa_ref": "D",
          "aa_start": 355,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4369,
          "cdna_start": 1212,
          "cds_end": null,
          "cds_length": 1146,
          "cds_start": 1063,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_007353.3",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1063_1065delGACinsTAT",
          "hgvs_p": "p.Asp355Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000275364.8",
          "protein_coding": true,
          "protein_id": "NP_031379.2",
          "strand": false,
          "transcript": "NM_007353.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 381,
          "aa_ref": "D",
          "aa_start": 355,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 4369,
          "cdna_start": 1212,
          "cds_end": null,
          "cds_length": 1146,
          "cds_start": 1063,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000275364.8",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1063_1065delGACinsTAT",
          "hgvs_p": "p.Asp355Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_007353.3",
          "protein_coding": true,
          "protein_id": "ENSP00000275364.3",
          "strand": false,
          "transcript": "ENST00000275364.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 964,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000489665.1",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "n.550+21446_550+21448delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": true,
          "transcript": "ENST00000489665.1",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 407,
          "aa_ref": "D",
          "aa_start": 381,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3980,
          "cdna_start": 1286,
          "cds_end": null,
          "cds_length": 1224,
          "cds_start": 1141,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000954395.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1141_1143delGACinsTAT",
          "hgvs_p": "p.Asp381Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000624454.1",
          "strand": false,
          "transcript": "ENST00000954395.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 398,
          "aa_ref": "D",
          "aa_start": 372,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5503,
          "cdna_start": 1311,
          "cds_end": null,
          "cds_length": 1197,
          "cds_start": 1114,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000917992.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1114_1116delGACinsTAT",
          "hgvs_p": "p.Asp372Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000588051.1",
          "strand": false,
          "transcript": "ENST00000917992.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 364,
          "aa_ref": "D",
          "aa_start": 338,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4318,
          "cdna_start": 1161,
          "cds_end": null,
          "cds_length": 1095,
          "cds_start": 1012,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001293092.2",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1012_1014delGACinsTAT",
          "hgvs_p": "p.Asp338Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001280021.1",
          "strand": false,
          "transcript": "NM_001293092.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 364,
          "aa_ref": "D",
          "aa_start": 338,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3887,
          "cdna_start": 1184,
          "cds_end": null,
          "cds_length": 1095,
          "cds_start": 1012,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000917994.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1012_1014delGACinsTAT",
          "hgvs_p": "p.Asp338Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000588053.1",
          "strand": false,
          "transcript": "ENST00000917994.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 364,
          "aa_ref": "D",
          "aa_start": 338,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4348,
          "cdna_start": 1195,
          "cds_end": null,
          "cds_length": 1095,
          "cds_start": 1012,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000954394.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.1012_1014delGACinsTAT",
          "hgvs_p": "p.Asp338Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000624453.1",
          "strand": false,
          "transcript": "ENST00000954394.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 322,
          "aa_ref": "D",
          "aa_start": 296,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4345,
          "cdna_start": 1188,
          "cds_end": null,
          "cds_length": 969,
          "cds_start": 886,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001282441.2",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.886_888delGACinsTAT",
          "hgvs_p": "p.Asp296Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001269370.1",
          "strand": false,
          "transcript": "NM_001282441.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 322,
          "aa_ref": "D",
          "aa_start": 296,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3918,
          "cdna_start": 1217,
          "cds_end": null,
          "cds_length": 969,
          "cds_start": 886,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000407904.7",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.886_888delGACinsTAT",
          "hgvs_p": "p.Asp296Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000385935.3",
          "strand": false,
          "transcript": "ENST00000407904.7",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 305,
          "aa_ref": "D",
          "aa_start": 279,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4246,
          "cdna_start": 1089,
          "cds_end": null,
          "cds_length": 918,
          "cds_start": 835,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001282440.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.835_837delGACinsTAT",
          "hgvs_p": "p.Asp279Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001269369.1",
          "strand": false,
          "transcript": "NM_001282440.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 305,
          "aa_ref": "D",
          "aa_start": 279,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3785,
          "cdna_start": 1089,
          "cds_end": null,
          "cds_length": 918,
          "cds_start": 835,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000407653.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.835_837delGACinsTAT",
          "hgvs_p": "p.Asp279Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000386054.1",
          "strand": false,
          "transcript": "ENST00000407653.1",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "Y",
          "aa_end": null,
          "aa_length": 259,
          "aa_ref": "D",
          "aa_start": 233,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3582,
          "cdna_start": 880,
          "cds_end": null,
          "cds_length": 780,
          "cds_start": 697,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000917993.1",
          "gene_hgnc_id": 4380,
          "gene_symbol": "GNA12",
          "hgvs_c": "c.697_699delGACinsTAT",
          "hgvs_p": "p.Asp233Tyr",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000588052.1",
          "strand": false,
          "transcript": "ENST00000917993.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 266,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3753,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 801,
          "cds_start": null,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001384741.1",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "c.*219_*221delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371670.1",
          "strand": true,
          "transcript": "NM_001384741.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 421,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2233,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1266,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384740.1",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "c.949-7597_949-7595delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": 6,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371669.1",
          "strand": true,
          "transcript": "NM_001384740.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 330,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1688,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 993,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001321766.2",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "c.948+21446_948+21448delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": 6,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001308695.1",
          "strand": true,
          "transcript": "NM_001321766.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 308,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1573,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 927,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_011515151.4",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "c.778+21446_778+21448delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_011513453.1",
          "strand": true,
          "transcript": "XM_011515151.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 308,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1518,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 927,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_017011774.3",
          "gene_hgnc_id": 22231,
          "gene_symbol": "AMZ1",
          "hgvs_c": "c.778+21446_778+21448delGTCinsATA",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_016867263.1",
          "strand": true,
          "transcript": "XM_017011774.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1205,
          "cdna_start": null,
          "cds_end": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.