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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: X-2953241-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2953241&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2953241,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381134.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "NM_000047.3",
"protein_id": "NP_000038.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 589,
"cds_start": 332,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000381134.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000381134.9",
"protein_id": "ENSP00000370526.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 589,
"cds_start": 332,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_000047.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "NM_001282628.2",
"protein_id": "NP_001269557.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "NM_001369080.1",
"protein_id": "NP_001356009.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "ENST00000545496.6",
"protein_id": "ENSP00000441417.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "ENST00000672027.1",
"protein_id": "ENSP00000500220.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "ENST00000681963.1",
"protein_id": "ENSP00000507760.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Arg136Pro",
"transcript": "ENST00000683290.1",
"protein_id": "ENSP00000508156.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 614,
"cds_start": 407,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.359G>C",
"hgvs_p": "p.Arg120Pro",
"transcript": "NM_001369079.1",
"protein_id": "NP_001356008.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 598,
"cds_start": 359,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "NM_001440751.1",
"protein_id": "NP_001427680.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 589,
"cds_start": 332,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000540563.6",
"protein_id": "ENSP00000438198.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 589,
"cds_start": 332,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000672097.1",
"protein_id": "ENSP00000500727.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 588,
"cds_start": 332,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.320G>C",
"hgvs_p": "p.Arg107Pro",
"transcript": "ENST00000683677.1",
"protein_id": "ENSP00000506786.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 585,
"cds_start": 320,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.320G>C",
"hgvs_p": "p.Arg107Pro",
"transcript": "ENST00000684364.1",
"protein_id": "ENSP00000507304.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 585,
"cds_start": 320,
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"cdna_start": 453,
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"mane_select": 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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001282631.2",
"protein_id": "NP_001269560.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 535,
"cds_start": 170,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001440750.1",
"protein_id": "NP_001427679.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
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"cds_start": 170,
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"cdna_start": 308,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000672761.1",
"protein_id": "ENSP00000500108.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 535,
"cds_start": 170,
"cds_end": null,
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"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000673032.1",
"protein_id": "ENSP00000500778.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 535,
"cds_start": 170,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 435,
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"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000684117.1",
"protein_id": "ENSP00000508337.1",
"transcript_support_level": null,
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"cdna_start": 335,
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000684077.1",
"protein_id": "ENSP00000506767.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 440,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000682364.1",
"protein_id": "ENSP00000507604.1",
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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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000684738.1",
"protein_id": "ENSP00000507481.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 402,
"cds_start": 332,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSL",
"gene_hgnc_id": 719,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Arg111Pro",
"transcript": "ENST00000683958.1",
"protein_id": "ENSP00000507756.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 376,
"cds_start": 332,
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}
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}