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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: 17-50551109-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50551109&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50551109,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022827.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1495T>A",
"hgvs_p": "p.Ser499Thr",
"transcript": "NM_022827.4",
"protein_id": "NP_073738.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 802,
"cds_start": 1495,
"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": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1495T>A",
"hgvs_p": "p.Ser499Thr",
"transcript": "ENST00000006658.11",
"protein_id": "ENSP00000006658.6",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 802,
"cds_start": 1495,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1447T>A",
"hgvs_p": "p.Ser483Thr",
"transcript": "ENST00000356488.8",
"protein_id": "ENSP00000348878.4",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 786,
"cds_start": 1447,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*1418T>A",
"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": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.1447T>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.1459T>A",
"hgvs_p": null,
"transcript": "ENST00000635113.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000635113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "n.*1418T>A",
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1561T>A",
"hgvs_p": "p.Ser521Thr",
"transcript": "ENST00000860314.1",
"protein_id": "ENSP00000530373.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 824,
"cds_start": 1561,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1495T>A",
"hgvs_p": "p.Ser499Thr",
"transcript": "ENST00000953008.1",
"protein_id": "ENSP00000623067.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 810,
"cds_start": 1495,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1516T>A",
"hgvs_p": "p.Ser506Thr",
"transcript": "ENST00000860317.1",
"protein_id": "ENSP00000530376.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 809,
"cds_start": 1516,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1489T>A",
"hgvs_p": "p.Ser497Thr",
"transcript": "ENST00000860311.1",
"protein_id": "ENSP00000530370.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 800,
"cds_start": 1489,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1486T>A",
"hgvs_p": "p.Ser496Thr",
"transcript": "ENST00000860313.1",
"protein_id": "ENSP00000530372.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 799,
"cds_start": 1486,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1486T>A",
"hgvs_p": "p.Ser496Thr",
"transcript": "ENST00000860315.1",
"protein_id": "ENSP00000530374.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 799,
"cds_start": 1486,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1486T>A",
"hgvs_p": "p.Ser496Thr",
"transcript": "ENST00000860320.1",
"protein_id": "ENSP00000530379.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 799,
"cds_start": 1486,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1495T>A",
"hgvs_p": "p.Ser499Thr",
"transcript": "ENST00000912606.1",
"protein_id": "ENSP00000582665.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 797,
"cds_start": 1495,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1459T>A",
"hgvs_p": "p.Ser487Thr",
"transcript": "ENST00000860310.1",
"protein_id": "ENSP00000530369.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 790,
"cds_start": 1459,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1447T>A",
"hgvs_p": "p.Ser483Thr",
"transcript": "NM_001258372.2",
"protein_id": "NP_001245301.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 786,
"cds_start": 1447,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1447T>A",
"hgvs_p": "p.Ser483Thr",
"transcript": "ENST00000634597.1",
"protein_id": "ENSP00000489591.1",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 786,
"cds_start": 1447,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1441T>A",
"hgvs_p": "p.Ser481Thr",
"transcript": "ENST00000860316.1",
"protein_id": "ENSP00000530375.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 784,
"cds_start": 1441,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1438T>A",
"hgvs_p": "p.Ser480Thr",
"transcript": "ENST00000860309.1",
"protein_id": "ENSP00000530368.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 783,
"cds_start": 1438,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1438T>A",
"hgvs_p": "p.Ser480Thr",
"transcript": "ENST00000953010.1",
"protein_id": "ENSP00000623069.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 783,
"cds_start": 1438,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA20",
"gene_hgnc_id": 26125,
"hgvs_c": "c.1390T>A",
"hgvs_p": "p.Ser464Thr",
"transcript": "ENST00000953009.1",
"protein_id": "ENSP00000623068.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 767,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}