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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: 2-237493523-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237493523&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237493523,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024101.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "NM_024101.7",
"protein_id": "NP_077006.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 600,
"cds_start": 97,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000264605.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024101.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000264605.8",
"protein_id": "ENSP00000264605.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 600,
"cds_start": 97,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_024101.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264605.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000338530.8",
"protein_id": "ENSP00000341845.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338530.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000409373.5",
"protein_id": "ENSP00000386780.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 480,
"cds_start": 97,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.308G>C",
"hgvs_p": null,
"transcript": "ENST00000468178.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468178.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951150.1",
"protein_id": "ENSP00000621209.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 644,
"cds_start": 97,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951150.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872932.1",
"protein_id": "ENSP00000542991.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 616,
"cds_start": 97,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872932.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951143.1",
"protein_id": "ENSP00000621202.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 616,
"cds_start": 97,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951143.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951136.1",
"protein_id": "ENSP00000621195.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 614,
"cds_start": 97,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951136.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872925.1",
"protein_id": "ENSP00000542984.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 600,
"cds_start": 97,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872925.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951133.1",
"protein_id": "ENSP00000621192.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 600,
"cds_start": 97,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951133.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872934.1",
"protein_id": "ENSP00000542993.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 588,
"cds_start": 97,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872934.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951132.1",
"protein_id": "ENSP00000621191.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 588,
"cds_start": 97,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951132.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872935.1",
"protein_id": "ENSP00000542994.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 586,
"cds_start": 97,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872935.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951149.1",
"protein_id": "ENSP00000621208.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 581,
"cds_start": 97,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951149.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951140.1",
"protein_id": "ENSP00000621199.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 576,
"cds_start": 97,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951140.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951148.1",
"protein_id": "ENSP00000621207.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 576,
"cds_start": 97,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951148.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "NM_001042467.3",
"protein_id": "NP_001035932.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042467.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872928.1",
"protein_id": "ENSP00000542987.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872928.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000872930.1",
"protein_id": "ENSP00000542989.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872930.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951128.1",
"protein_id": "ENSP00000621187.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951128.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Glu33Gln",
"transcript": "ENST00000951135.1",
"protein_id": "ENSP00000621194.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 572,
"cds_start": 97,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951135.1"
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