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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: 6-31142614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31142614&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31142614,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000396268.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2594C>T",
"hgvs_p": "p.Ser865Phe",
"transcript": "NM_001105564.2",
"protein_id": "NP_001099034.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 871,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": "ENST00000396268.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2594C>T",
"hgvs_p": "p.Ser865Phe",
"transcript": "ENST00000396268.8",
"protein_id": "ENSP00000379566.3",
"transcript_support_level": 1,
"aa_start": 865,
"aa_end": null,
"aa_length": 871,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": "NM_001105564.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Ser829Phe",
"transcript": "ENST00000451521.6",
"protein_id": "ENSP00000401039.2",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 835,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "ENST00000376266.9",
"protein_id": "ENSP00000365442.5",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Ser874Phe",
"transcript": "NM_001394641.1",
"protein_id": "NP_001381570.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 880,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Ser829Phe",
"transcript": "NM_001105563.3",
"protein_id": "NP_001099033.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 835,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "NM_001394642.1",
"protein_id": "NP_001381571.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "NM_001394643.1",
"protein_id": "NP_001381572.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "NM_001394644.1",
"protein_id": "NP_001381573.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "NM_019052.4",
"protein_id": "NP_061925.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2318C>T",
"hgvs_p": "p.Ser773Phe",
"transcript": "NM_001394646.1",
"protein_id": "NP_001381575.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 779,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2249C>T",
"hgvs_p": "p.Ser750Phe",
"transcript": "NM_001394647.1",
"protein_id": "NP_001381576.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 756,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2219C>T",
"hgvs_p": "p.Ser740Phe",
"transcript": "NM_001394648.1",
"protein_id": "NP_001381577.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 746,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2168C>T",
"hgvs_p": "p.Ser723Phe",
"transcript": "ENST00000396263.6",
"protein_id": "ENSP00000379561.2",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 729,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Ser657Phe",
"transcript": "NM_001394649.1",
"protein_id": "NP_001381578.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 663,
"cds_start": 1970,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2513C>T",
"hgvs_p": "p.Ser838Phe",
"transcript": "XM_011514702.3",
"protein_id": "XP_011513004.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 844,
"cds_start": 2513,
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"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_017010963.2",
"protein_id": "XP_016866452.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
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"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_017010966.2",
"protein_id": "XP_016866455.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
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"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_017010968.2",
"protein_id": "XP_016866457.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
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"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_047418908.1",
"protein_id": "XP_047274864.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.2327C>T",
"hgvs_p": "p.Ser776Phe",
"transcript": "XM_047418909.1",
"protein_id": "XP_047274865.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 782,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
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{
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}
],
"message": null
}