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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: 21-14967553-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=14967553&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 14967553,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000318948.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_003489.4",
"protein_id": "NP_003480.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "ENST00000318948.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000318948.7",
"protein_id": "ENSP00000327213.4",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "NM_003489.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439275.1",
"protein_id": "NP_001426204.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439276.1",
"protein_id": "NP_001426205.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 7690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439277.1",
"protein_id": "NP_001426206.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 7813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439278.1",
"protein_id": "NP_001426207.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 7584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439279.1",
"protein_id": "NP_001426208.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439280.1",
"protein_id": "NP_001426209.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439281.1",
"protein_id": "NP_001426210.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 7805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439282.1",
"protein_id": "NP_001426211.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439283.1",
"protein_id": "NP_001426212.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 8308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439284.1",
"protein_id": "NP_001426213.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 7548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439285.1",
"protein_id": "NP_001426214.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439286.1",
"protein_id": "NP_001426215.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
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"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 8126,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "NM_001439288.1",
"protein_id": "NP_001426217.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 7837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000400199.5",
"protein_id": "ENSP00000383060.1",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
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"cdna_start": 1244,
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"cdna_length": 7562,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "ENST00000400202.5",
"protein_id": "ENSP00000383063.1",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "XM_011529751.3",
"protein_id": "XP_011528053.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 7832,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "XM_017028475.2",
"protein_id": "XP_016883964.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
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"cdna_start": 1946,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "XM_047440991.1",
"protein_id": "XP_047296947.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
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"cds_end": null,
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"cdna_start": 1503,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "XM_047440992.1",
"protein_id": "XP_047296948.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
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"cdna_start": 1459,
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"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
"transcript": "XM_047440993.1",
"protein_id": "XP_047296949.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1158,
"cds_start": 640,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.640A>T",
"hgvs_p": "p.Arg214Trp",
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{
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}
],
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}