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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: 4-1723530-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1723530&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1723530,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000313288.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_006342.3",
"protein_id": "NP_006333.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 838,
"cds_start": 109,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "ENST00000313288.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000313288.9",
"protein_id": "ENSP00000326550.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 838,
"cds_start": 109,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "NM_006342.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.-137C>G",
"hgvs_p": null,
"transcript": "NM_001441316.1",
"protein_id": "NP_001428245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.-386C>G",
"hgvs_p": null,
"transcript": "NM_001441317.1",
"protein_id": "NP_001428246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441304.1",
"protein_id": "NP_001428233.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 849,
"cds_start": 109,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441305.1",
"protein_id": "NP_001428234.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 842,
"cds_start": 109,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441306.1",
"protein_id": "NP_001428235.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 840,
"cds_start": 109,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441307.1",
"protein_id": "NP_001428236.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 839,
"cds_start": 109,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441319.1",
"protein_id": "NP_001428248.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 838,
"cds_start": 109,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000651472.1",
"protein_id": "ENSP00000498361.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 838,
"cds_start": 109,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441308.1",
"protein_id": "NP_001428237.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 837,
"cds_start": 109,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441309.1",
"protein_id": "NP_001428238.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 837,
"cds_start": 109,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441310.1",
"protein_id": "NP_001428239.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 836,
"cds_start": 109,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441311.1",
"protein_id": "NP_001428240.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 836,
"cds_start": 109,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441312.1",
"protein_id": "NP_001428241.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 836,
"cds_start": 109,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441313.1",
"protein_id": "NP_001428242.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 836,
"cds_start": 109,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441314.1",
"protein_id": "NP_001428243.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 834,
"cds_start": 109,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000652770.1",
"protein_id": "ENSP00000498219.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 834,
"cds_start": 109,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441315.1",
"protein_id": "NP_001428244.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 808,
"cds_start": 109,
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"cdna_start": 233,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001441318.1",
"protein_id": "NP_001428247.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 482,
"cds_start": 109,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001410699.1",
"protein_id": "NP_001397628.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 478,
"cds_start": 109,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000612220.5",
"protein_id": "ENSP00000478580.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 478,
"cds_start": 109,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC3",
"gene_hgnc_id": 11524,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000458173.4",
"protein_id": "ENSP00000415914.4",
"transcript_support_level": 5,
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{
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],
"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
}