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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: 13-51365824-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51365824&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51365824,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012141.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2592A>G",
"hgvs_p": "p.Ile864Met",
"transcript": "NM_012141.3",
"protein_id": "NP_036273.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 887,
"cds_start": 2592,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": "ENST00000311234.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2592A>G",
"hgvs_p": "p.Ile864Met",
"transcript": "ENST00000311234.9",
"protein_id": "ENSP00000310260.4",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 887,
"cds_start": 2592,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": "NM_012141.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2553A>G",
"hgvs_p": "p.Ile851Met",
"transcript": "ENST00000398119.6",
"protein_id": "ENSP00000381187.2",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 874,
"cds_start": 2553,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 7041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2553A>G",
"hgvs_p": "p.Ile851Met",
"transcript": "NM_001039937.2",
"protein_id": "NP_001035026.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 874,
"cds_start": 2553,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2611,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2058A>G",
"hgvs_p": "p.Ile686Met",
"transcript": "NM_001306091.2",
"protein_id": "NP_001293020.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 709,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 7634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2058A>G",
"hgvs_p": "p.Ile686Met",
"transcript": "ENST00000497989.5",
"protein_id": "ENSP00000419871.1",
"transcript_support_level": 2,
"aa_start": 686,
"aa_end": null,
"aa_length": 709,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.1644A>G",
"hgvs_p": "p.Ile548Met",
"transcript": "ENST00000490542.5",
"protein_id": "ENSP00000419984.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 571,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.2592A>G",
"hgvs_p": "p.Ile864Met",
"transcript": "XM_011535040.4",
"protein_id": "XP_011533342.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 887,
"cds_start": 2592,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 7196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.1950A>G",
"hgvs_p": "p.Ile650Met",
"transcript": "XM_047430264.1",
"protein_id": "XP_047286220.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 673,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.1296A>G",
"hgvs_p": "p.Ile432Met",
"transcript": "XM_047430265.1",
"protein_id": "XP_047286221.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 455,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.*2420A>G",
"hgvs_p": null,
"transcript": "ENST00000469430.5",
"protein_id": "ENSP00000417442.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.309A>G",
"hgvs_p": null,
"transcript": "ENST00000476666.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.2648A>G",
"hgvs_p": null,
"transcript": "ENST00000483441.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3103A>G",
"hgvs_p": null,
"transcript": "XR_007063673.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3103A>G",
"hgvs_p": null,
"transcript": "XR_007063674.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3103A>G",
"hgvs_p": null,
"transcript": "XR_007063675.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3103A>G",
"hgvs_p": null,
"transcript": "XR_007063676.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.*2420A>G",
"hgvs_p": null,
"transcript": "ENST00000469430.5",
"protein_id": "ENSP00000417442.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"dbsnp": "rs1432721599",
"frequency_reference_population": 0.0000018736673,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013801,
"gnomad_genomes_af": 0.00000658016,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7544195652008057,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.3406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.746,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012141.3",
"gene_symbol": "INTS6",
"hgnc_id": 14879,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2592A>G",
"hgvs_p": "p.Ile864Met"
}
],
"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
}