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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: 1-70246889-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=70246889&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 70246889,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001394402.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001350605.2",
"protein_id": "NP_001337534.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 484,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": "ENST00000370949.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350605.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000370949.2",
"protein_id": "ENSP00000359987.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 484,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": "NM_001350605.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370949.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000395136.7",
"protein_id": "ENSP00000378568.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395136.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000370950.7",
"protein_id": "ENSP00000359988.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 484,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370950.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000370951.5",
"protein_id": "ENSP00000359989.1",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 483,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370951.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "n.2365G>A",
"hgvs_p": null,
"transcript": "ENST00000484162.5",
"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": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484162.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "NM_001394402.1",
"protein_id": "NP_001381331.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 494,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394402.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "NM_001394403.1",
"protein_id": "NP_001381332.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 494,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394403.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001350608.2",
"protein_id": "NP_001337537.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350608.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001394404.1",
"protein_id": "NP_001381333.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394404.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000855490.1",
"protein_id": "ENSP00000525549.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855490.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000915575.1",
"protein_id": "ENSP00000585634.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915575.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000915576.1",
"protein_id": "ENSP00000585635.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 491,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915576.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001350609.2",
"protein_id": "NP_001337538.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350609.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001394405.1",
"protein_id": "NP_001381334.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000855489.1",
"protein_id": "ENSP00000525548.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855489.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000915574.1",
"protein_id": "ENSP00000585633.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915574.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000915579.1",
"protein_id": "ENSP00000585638.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915579.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000855492.1",
"protein_id": "ENSP00000525551.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 487,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855492.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000915577.1",
"protein_id": "ENSP00000585636.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 487,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915577.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000915580.1",
"protein_id": "ENSP00000585639.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 487,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915580.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "NM_001350606.2",
"protein_id": "NP_001337535.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 484,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1111,
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}