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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: 4-127933035-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127933035&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127933035,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000641686.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "NM_001371596.2",
"protein_id": "NP_001358525.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 518,
"cds_start": 813,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000641686.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "ENST00000641686.2",
"protein_id": "ENSP00000493218.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 518,
"cds_start": 813,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001371596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "ENST00000296468.8",
"protein_id": "ENSP00000296468.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 518,
"cds_start": 813,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"transcript": "ENST00000641243.1",
"protein_id": "ENSP00000493083.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 229,
"cds_start": 668,
"cds_end": null,
"cds_length": 690,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "ENST00000641134.1",
"protein_id": "ENSP00000492925.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 184,
"cds_start": 533,
"cds_end": null,
"cds_length": 555,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.668C>T",
"hgvs_p": "p.Pro223Leu",
"transcript": "XM_047449997.1",
"protein_id": "XP_047305953.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 229,
"cds_start": 668,
"cds_end": null,
"cds_length": 690,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_047449999.1",
"protein_id": "XP_047305955.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 184,
"cds_start": 533,
"cds_end": null,
"cds_length": 555,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "NM_001371591.2",
"protein_id": "NP_001358520.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 521,
"cds_start": 813,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.819C>T",
"hgvs_p": "p.Ala273Ala",
"transcript": "NM_001371592.2",
"protein_id": "NP_001358521.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 520,
"cds_start": 819,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "NM_152778.4",
"protein_id": "NP_689991.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 518,
"cds_start": 813,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.699C>T",
"hgvs_p": "p.Ala233Ala",
"transcript": "NM_001371593.2",
"protein_id": "NP_001358522.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 480,
"cds_start": 699,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.699C>T",
"hgvs_p": "p.Ala233Ala",
"transcript": "ENST00000641186.1",
"protein_id": "ENSP00000493347.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 480,
"cds_start": 699,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"transcript": "NM_001371590.2",
"protein_id": "NP_001358519.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 473,
"cds_start": 678,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"transcript": "ENST00000641178.1",
"protein_id": "ENSP00000492989.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 473,
"cds_start": 678,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.666C>T",
"hgvs_p": "p.Ala222Ala",
"transcript": "NM_001371594.2",
"protein_id": "NP_001358523.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 469,
"cds_start": 666,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Ala271Ala",
"transcript": "ENST00000642042.1",
"protein_id": "ENSP00000493260.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 455,
"cds_start": 813,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Ala204Ala",
"transcript": "NM_001363520.3",
"protein_id": "NP_001350449.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 451,
"cds_start": 612,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Ala204Ala",
"transcript": "ENST00000641690.1",
"protein_id": "ENSP00000492966.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 451,
"cds_start": 612,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.531C>T",
"hgvs_p": "p.Ala177Ala",
"transcript": "NM_001371595.1",
"protein_id": "NP_001358524.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 424,
"cds_start": 531,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.531C>T",
"hgvs_p": "p.Ala177Ala",
"transcript": "ENST00000513559.6",
"protein_id": "ENSP00000425000.2",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 424,
"cds_start": 531,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "NM_001363521.3",
"protein_id": "NP_001350450.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 413,
"cds_start": 498,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "ENST00000641509.1",
"protein_id": "ENSP00000493459.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 413,
"cds_start": 498,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_001410765.1",
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}
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}