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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: 8-73046105-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73046105&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73046105,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000276603.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "NM_017489.3",
"protein_id": "NP_059523.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 439,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": "ENST00000276603.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "ENST00000276603.10",
"protein_id": "ENSP00000276603.5",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 439,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": "NM_017489.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "ENST00000276602.10",
"protein_id": "ENSP00000276602.6",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 419,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.2430C>G",
"hgvs_p": null,
"transcript": "ENST00000518961.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1378C>G",
"hgvs_p": "p.Leu460Val",
"transcript": "NM_001413364.1",
"protein_id": "NP_001400293.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 469,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Leu440Val",
"transcript": "NM_001410928.1",
"protein_id": "NP_001397857.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 449,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Leu440Val",
"transcript": "ENST00000678860.1",
"protein_id": "ENSP00000503453.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 449,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "NM_003218.4",
"protein_id": "NP_003209.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 419,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1192C>G",
"hgvs_p": "p.Leu398Val",
"transcript": "NM_001413370.1",
"protein_id": "NP_001400299.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 407,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Leu380Val",
"transcript": "ENST00000678518.1",
"protein_id": "ENSP00000504470.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 389,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Leu378Val",
"transcript": "NM_001413372.1",
"protein_id": "NP_001400301.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 387,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1066C>G",
"hgvs_p": "p.Leu356Val",
"transcript": "NM_001413365.1",
"protein_id": "NP_001400294.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 365,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.1006C>G",
"hgvs_p": "p.Leu336Val",
"transcript": "NM_001413366.1",
"protein_id": "NP_001400295.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 345,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.976C>G",
"hgvs_p": "p.Leu326Val",
"transcript": "NM_001413367.1",
"protein_id": "NP_001400296.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 335,
"cds_start": 976,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Leu307Val",
"transcript": "NM_001413369.1",
"protein_id": "NP_001400298.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 316,
"cds_start": 919,
"cds_end": null,
"cds_length": 951,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "c.916C>G",
"hgvs_p": "p.Leu306Val",
"transcript": "NM_001413368.1",
"protein_id": "NP_001400297.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 315,
"cds_start": 916,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.*450C>G",
"hgvs_p": null,
"transcript": "ENST00000676483.1",
"protein_id": "ENSP00000504467.1",
"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": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.2694C>G",
"hgvs_p": null,
"transcript": "ENST00000678912.1",
"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": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.*980C>G",
"hgvs_p": null,
"transcript": "ENST00000678997.1",
"protein_id": "ENSP00000503607.1",
"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": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.1412C>G",
"hgvs_p": null,
"transcript": "NR_182138.1",
"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": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.1307C>G",
"hgvs_p": null,
"transcript": "NR_182139.1",
"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": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.1247C>G",
"hgvs_p": null,
"transcript": "NR_182140.1",
"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": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF1",
"gene_hgnc_id": 11728,
"hgvs_c": "n.1231C>G",
"hgvs_p": null,
"transcript": "NR_182141.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
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}