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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: 17-50552097-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50552097&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50552097,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022827.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1874A>G",
"hgvs_p": "p.Lys625Arg",
"transcript": "NM_022827.4",
"protein_id": "NP_073738.2",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 802,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000006658.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022827.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1874A>G",
"hgvs_p": "p.Lys625Arg",
"transcript": "ENST00000006658.11",
"protein_id": "ENSP00000006658.6",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 802,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000006658.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Lys609Arg",
"transcript": "ENST00000356488.8",
"protein_id": "ENSP00000348878.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 786,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356488.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*1797A>G",
"hgvs_p": null,
"transcript": "ENST00000503127.5",
"protein_id": "ENSP00000426228.1",
"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": "ENST00000503127.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*292A>G",
"hgvs_p": null,
"transcript": "ENST00000511937.5",
"protein_id": "ENSP00000489476.1",
"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": "ENST00000511937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*1797A>G",
"hgvs_p": null,
"transcript": "ENST00000503127.5",
"protein_id": "ENSP00000426228.1",
"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": "ENST00000503127.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*292A>G",
"hgvs_p": null,
"transcript": "ENST00000511937.5",
"protein_id": "ENSP00000489476.1",
"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": "ENST00000511937.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1940A>G",
"hgvs_p": "p.Lys647Arg",
"transcript": "ENST00000860314.1",
"protein_id": "ENSP00000530373.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 824,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860314.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Lys633Arg",
"transcript": "ENST00000953008.1",
"protein_id": "ENSP00000623067.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 810,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953008.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Lys632Arg",
"transcript": "ENST00000860317.1",
"protein_id": "ENSP00000530376.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 809,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860317.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Lys623Arg",
"transcript": "ENST00000860311.1",
"protein_id": "ENSP00000530370.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 800,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860311.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Lys622Arg",
"transcript": "ENST00000860313.1",
"protein_id": "ENSP00000530372.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 799,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860313.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Lys622Arg",
"transcript": "ENST00000860315.1",
"protein_id": "ENSP00000530374.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 799,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860315.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Lys622Arg",
"transcript": "ENST00000860320.1",
"protein_id": "ENSP00000530379.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 799,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860320.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1859A>G",
"hgvs_p": "p.Lys620Arg",
"transcript": "ENST00000912606.1",
"protein_id": "ENSP00000582665.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 797,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912606.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Lys613Arg",
"transcript": "ENST00000860310.1",
"protein_id": "ENSP00000530369.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 790,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860310.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Lys609Arg",
"transcript": "NM_001258372.2",
"protein_id": "NP_001245301.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 786,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258372.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Lys609Arg",
"transcript": "ENST00000634597.1",
"protein_id": "ENSP00000489591.1",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 786,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634597.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1820A>G",
"hgvs_p": "p.Lys607Arg",
"transcript": "ENST00000860316.1",
"protein_id": "ENSP00000530375.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 784,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860316.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "ENST00000860309.1",
"protein_id": "ENSP00000530368.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 783,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860309.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "ENST00000953010.1",
"protein_id": "ENSP00000623069.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 783,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953010.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.Lys590Arg",
"transcript": "ENST00000953009.1",
"protein_id": "ENSP00000623068.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 767,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}