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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: 4-127930752-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127930752&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127930752,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000641686.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "NM_001371596.2",
"protein_id": "NP_001358525.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 518,
"cds_start": 929,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000641686.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "ENST00000641686.2",
"protein_id": "ENSP00000493218.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 518,
"cds_start": 929,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001371596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "ENST00000296468.8",
"protein_id": "ENSP00000296468.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 518,
"cds_start": 929,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "NM_001371591.2",
"protein_id": "NP_001358520.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 521,
"cds_start": 929,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Gly312Ala",
"transcript": "NM_001371592.2",
"protein_id": "NP_001358521.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 520,
"cds_start": 935,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "NM_152778.4",
"protein_id": "NP_689991.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 518,
"cds_start": 929,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "NM_001371593.2",
"protein_id": "NP_001358522.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000641186.1",
"protein_id": "ENSP00000493347.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Gly265Ala",
"transcript": "NM_001371590.2",
"protein_id": "NP_001358519.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 473,
"cds_start": 794,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Gly265Ala",
"transcript": "ENST00000641178.1",
"protein_id": "ENSP00000492989.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 473,
"cds_start": 794,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.782G>C",
"hgvs_p": "p.Gly261Ala",
"transcript": "NM_001371594.2",
"protein_id": "NP_001358523.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 469,
"cds_start": 782,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "ENST00000642042.1",
"protein_id": "ENSP00000493260.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 455,
"cds_start": 929,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.728G>C",
"hgvs_p": "p.Gly243Ala",
"transcript": "NM_001363520.3",
"protein_id": "NP_001350449.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 451,
"cds_start": 728,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.728G>C",
"hgvs_p": "p.Gly243Ala",
"transcript": "ENST00000641690.1",
"protein_id": "ENSP00000492966.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 451,
"cds_start": 728,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.647G>C",
"hgvs_p": "p.Gly216Ala",
"transcript": "NM_001371595.1",
"protein_id": "NP_001358524.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 424,
"cds_start": 647,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.647G>C",
"hgvs_p": "p.Gly216Ala",
"transcript": "ENST00000513559.6",
"protein_id": "ENSP00000425000.2",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 424,
"cds_start": 647,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.614G>C",
"hgvs_p": "p.Gly205Ala",
"transcript": "NM_001363521.3",
"protein_id": "NP_001350450.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 413,
"cds_start": 614,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.614G>C",
"hgvs_p": "p.Gly205Ala",
"transcript": "ENST00000641509.1",
"protein_id": "ENSP00000493459.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 413,
"cds_start": 614,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.479G>C",
"hgvs_p": "p.Gly160Ala",
"transcript": "NM_001410765.1",
"protein_id": "NP_001397694.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 368,
"cds_start": 479,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.479G>C",
"hgvs_p": "p.Gly160Ala",
"transcript": "ENST00000641147.1",
"protein_id": "ENSP00000493133.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 368,
"cds_start": 479,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.479G>C",
"hgvs_p": "p.Gly160Ala",
"transcript": "ENST00000641393.1",
"protein_id": "ENSP00000493197.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 368,
"cds_start": 479,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 4069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "NM_001437269.1",
"protein_id": "NP_001424198.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 336,
"cds_start": 929,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
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"phenotype_combined": "Neuronal ceroid lipofuscinosis 7",
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}
],
"message": null
}