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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: 7-33533991-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33533991&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 33533991,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001348041.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "NM_198428.3",
"protein_id": "NP_940820.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 887,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242067.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198428.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "ENST00000242067.11",
"protein_id": "ENSP00000242067.6",
"transcript_support_level": 1,
"aa_start": 779,
"aa_end": null,
"aa_length": 887,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198428.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242067.11"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1034T>G",
"hgvs_p": "p.Leu345Arg",
"transcript": "ENST00000434373.3",
"protein_id": "ENSP00000388114.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 453,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434373.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*1097T>G",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433714.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*1097T>G",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433714.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2462T>G",
"hgvs_p": "p.Leu821Arg",
"transcript": "ENST00000942912.1",
"protein_id": "ENSP00000612971.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 929,
"cds_start": 2462,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942912.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2459T>G",
"hgvs_p": "p.Leu820Arg",
"transcript": "ENST00000671871.1",
"protein_id": "ENSP00000499908.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 928,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671871.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2444T>G",
"hgvs_p": "p.Leu815Arg",
"transcript": "ENST00000942913.1",
"protein_id": "ENSP00000612972.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 923,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942913.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "NM_001348041.4",
"protein_id": "NP_001334970.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 908,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348041.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "ENST00000673056.1",
"protein_id": "ENSP00000499989.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 908,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673056.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "NM_001348036.1",
"protein_id": "NP_001334965.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 887,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348036.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "NM_001348043.3",
"protein_id": "NP_001334972.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 886,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348043.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "ENST00000942907.1",
"protein_id": "ENSP00000612966.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 886,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942907.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2321T>G",
"hgvs_p": "p.Leu774Arg",
"transcript": "NM_001033605.2",
"protein_id": "NP_001028777.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 882,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033605.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2321T>G",
"hgvs_p": "p.Leu774Arg",
"transcript": "ENST00000355070.6",
"protein_id": "ENSP00000347182.2",
"transcript_support_level": 5,
"aa_start": 774,
"aa_end": null,
"aa_length": 882,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355070.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "NM_001362679.1",
"protein_id": "NP_001349608.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 871,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362679.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2336T>G",
"hgvs_p": "p.Leu779Arg",
"transcript": "ENST00000671952.1",
"protein_id": "ENSP00000500239.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 871,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671952.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2273T>G",
"hgvs_p": "p.Leu758Arg",
"transcript": "ENST00000942908.1",
"protein_id": "ENSP00000612967.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 866,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942908.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2240T>G",
"hgvs_p": "p.Leu747Arg",
"transcript": "ENST00000942911.1",
"protein_id": "ENSP00000612970.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 855,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942911.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2237T>G",
"hgvs_p": "p.Leu746Arg",
"transcript": "ENST00000942910.1",
"protein_id": "ENSP00000612969.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 854,
"cds_start": 2237,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942910.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2231T>G",
"hgvs_p": "p.Leu744Arg",
"transcript": "NM_001033604.2",
"protein_id": "NP_001028776.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 852,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033604.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.2231T>G",
"hgvs_p": "p.Leu744Arg",
"transcript": "ENST00000396127.6",
"protein_id": "ENSP00000379433.2",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 852,
"cds_start": 2231,
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}
],
"message": null
}