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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: 9-92047268-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92047268&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92047268,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001281303.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "NM_006415.4",
"protein_id": "NP_006406.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 473,
"cds_start": 985,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "ENST00000262554.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006415.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000262554.7",
"protein_id": "ENSP00000262554.2",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 473,
"cds_start": 985,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "NM_006415.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262554.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.1195C>A",
"hgvs_p": "p.Arg399Arg",
"transcript": "ENST00000953500.1",
"protein_id": "ENSP00000623559.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 543,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953500.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000884978.1",
"protein_id": "ENSP00000555037.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 534,
"cds_start": 985,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884978.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "NM_001281303.2",
"protein_id": "NP_001268232.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 513,
"cds_start": 985,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281303.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000686600.1",
"protein_id": "ENSP00000509268.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 504,
"cds_start": 985,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686600.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.1045C>A",
"hgvs_p": "p.Arg349Arg",
"transcript": "ENST00000687972.1",
"protein_id": "ENSP00000509208.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 493,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687972.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000953498.1",
"protein_id": "ENSP00000623557.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 488,
"cds_start": 985,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953498.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "ENST00000953503.1",
"protein_id": "ENSP00000623562.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 486,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953503.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000884974.1",
"protein_id": "ENSP00000555033.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 482,
"cds_start": 985,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884974.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.1009C>A",
"hgvs_p": "p.Arg337Arg",
"transcript": "ENST00000884977.1",
"protein_id": "ENSP00000555036.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 481,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884977.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.1006C>A",
"hgvs_p": "p.Arg336Arg",
"transcript": "ENST00000953501.1",
"protein_id": "ENSP00000623560.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 480,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953501.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.979C>A",
"hgvs_p": "p.Arg327Arg",
"transcript": "ENST00000913243.1",
"protein_id": "ENSP00000583302.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 471,
"cds_start": 979,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913243.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000913242.1",
"protein_id": "ENSP00000583301.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 469,
"cds_start": 985,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913242.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.967C>A",
"hgvs_p": "p.Arg323Arg",
"transcript": "ENST00000953502.1",
"protein_id": "ENSP00000623561.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 467,
"cds_start": 967,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953502.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000884973.1",
"protein_id": "ENSP00000555032.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 443,
"cds_start": 895,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884973.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.877C>A",
"hgvs_p": "p.Arg293Arg",
"transcript": "ENST00000884976.1",
"protein_id": "ENSP00000555035.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 437,
"cds_start": 877,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884976.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Arg329Arg",
"transcript": "ENST00000953499.1",
"protein_id": "ENSP00000623558.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 409,
"cds_start": 985,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953499.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Arg229Arg",
"transcript": "ENST00000884975.1",
"protein_id": "ENSP00000555034.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 373,
"cds_start": 685,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884975.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.619C>A",
"hgvs_p": "p.Arg207Arg",
"transcript": "NM_001368272.1",
"protein_id": "NP_001355201.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 351,
"cds_start": 619,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368272.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_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.520C>A",
"hgvs_p": "p.Arg174Arg",
"transcript": "NM_001368273.1",
"protein_id": "NP_001355202.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 318,
"cds_start": 520,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368273.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
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}