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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: 9-92047238-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92047238&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92047238,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262554.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Ala339Ser",
"transcript": "NM_006415.4",
"protein_id": "NP_006406.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 473,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "ENST00000262554.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Ala339Ser",
"transcript": "ENST00000262554.7",
"protein_id": "ENSP00000262554.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 473,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "NM_006415.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Ala339Ser",
"transcript": "NM_001281303.2",
"protein_id": "NP_001268232.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 513,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1015G>T",
"hgvs_p": "p.Ala339Ser",
"transcript": "ENST00000686600.1",
"protein_id": "ENSP00000509268.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 504,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1075G>T",
"hgvs_p": "p.Ala359Ser",
"transcript": "ENST00000687972.1",
"protein_id": "ENSP00000509208.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 493,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Ala217Ser",
"transcript": "NM_001368272.1",
"protein_id": "NP_001355201.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 351,
"cds_start": 649,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.550G>T",
"hgvs_p": "p.Ala184Ser",
"transcript": "NM_001368273.1",
"protein_id": "NP_001355202.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 318,
"cds_start": 550,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.832G>T",
"hgvs_p": "p.Ala278Ser",
"transcript": "XM_047422638.1",
"protein_id": "XP_047278594.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 412,
"cds_start": 832,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "XM_047422639.1",
"protein_id": "XP_047278595.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 346,
"cds_start": 634,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 6995,
"cdna_end": null,
"cdna_length": 8720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.550G>T",
"hgvs_p": "p.Ala184Ser",
"transcript": "XM_024447378.2",
"protein_id": "XP_024303146.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 318,
"cds_start": 550,
"cds_end": null,
"cds_length": 957,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.550G>T",
"hgvs_p": "p.Ala184Ser",
"transcript": "XM_024447379.2",
"protein_id": "XP_024303147.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 318,
"cds_start": 550,
"cds_end": null,
"cds_length": 957,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1425G>T",
"hgvs_p": null,
"transcript": "ENST00000482632.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1187G>T",
"hgvs_p": null,
"transcript": "ENST00000642671.1",
"protein_id": "ENSP00000495764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1014G>T",
"hgvs_p": null,
"transcript": "ENST00000643599.1",
"protein_id": "ENSP00000494770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*756G>T",
"hgvs_p": null,
"transcript": "ENST00000644140.1",
"protein_id": "ENSP00000493933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*818G>T",
"hgvs_p": null,
"transcript": "ENST00000646481.1",
"protein_id": "ENSP00000496627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*818G>T",
"hgvs_p": null,
"transcript": "ENST00000646534.1",
"protein_id": "ENSP00000495388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1112G>T",
"hgvs_p": null,
"transcript": "ENST00000686799.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1015G>T",
"hgvs_p": null,
"transcript": "ENST00000687427.1",
"protein_id": "ENSP00000509426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1162G>T",
"hgvs_p": null,
"transcript": "ENST00000687817.1",
"protein_id": "ENSP00000508926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.922G>T",
"hgvs_p": null,
"transcript": "ENST00000689261.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1265G>T",
"hgvs_p": null,
"transcript": "ENST00000689401.1",
"protein_id": "ENSP00000510251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1265G>T",
"hgvs_p": null,
"transcript": "ENST00000689423.1",
"protein_id": "ENSP00000508519.1",
"transcript_support_level": null,
"aa_start": null,
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}
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}