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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: 4-127938830-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127938830&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127938830,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000641686.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "NM_001371596.2",
"protein_id": "NP_001358525.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 518,
"cds_start": 707,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000641686.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000641686.2",
"protein_id": "ENSP00000493218.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 518,
"cds_start": 707,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001371596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000296468.8",
"protein_id": "ENSP00000296468.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 518,
"cds_start": 707,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "NM_001371591.2",
"protein_id": "NP_001358520.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 521,
"cds_start": 707,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"transcript": "NM_001371592.2",
"protein_id": "NP_001358521.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 520,
"cds_start": 713,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "NM_152778.4",
"protein_id": "NP_689991.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 518,
"cds_start": 707,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "NM_001371593.2",
"protein_id": "NP_001358522.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 480,
"cds_start": 593,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "ENST00000641186.1",
"protein_id": "ENSP00000493347.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 480,
"cds_start": 593,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"transcript": "NM_001371590.2",
"protein_id": "NP_001358519.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 473,
"cds_start": 572,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"transcript": "ENST00000641178.1",
"protein_id": "ENSP00000492989.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 473,
"cds_start": 572,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Arg187Leu",
"transcript": "NM_001371594.2",
"protein_id": "NP_001358523.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 469,
"cds_start": 560,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000642042.1",
"protein_id": "ENSP00000493260.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 455,
"cds_start": 707,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Arg142Leu",
"transcript": "NM_001371595.1",
"protein_id": "NP_001358524.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 424,
"cds_start": 425,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Arg142Leu",
"transcript": "ENST00000513559.6",
"protein_id": "ENSP00000425000.2",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 424,
"cds_start": 425,
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"cdna_start": 655,
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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": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "NM_001437269.1",
"protein_id": "NP_001424198.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 336,
"cds_start": 707,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000641482.1",
"protein_id": "ENSP00000493277.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
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"cds_start": 707,
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"cdna_start": 722,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "NM_001410766.1",
"protein_id": "NP_001397695.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 593,
"cds_end": null,
"cds_length": 897,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "ENST00000641590.1",
"protein_id": "ENSP00000493132.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 593,
"cds_end": null,
"cds_length": 897,
"cdna_start": 605,
"cdna_end": null,
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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": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000641743.1",
"protein_id": "ENSP00000493130.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "ENST00000641503.1",
"protein_id": "ENSP00000493304.1",
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"aa_start": 198,
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"cdna_start": 605,
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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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.551G>T",
"hgvs_p": "p.Arg184Leu",
"transcript": "ENST00000641538.1",
"protein_id": "ENSP00000492993.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 247,
"cds_start": 551,
"cds_end": null,
"cds_length": 745,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Val188Leu",
"transcript": "ENST00000641243.1",
"protein_id": "ENSP00000493083.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 229,
"cds_start": 562,
"cds_end": null,
"cds_length": 690,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Val143Leu",
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}
],
"message": null
}