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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: 14-69769187-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69769187&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69769187,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006925.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "NM_001320214.2",
"protein_id": "NP_001307143.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557154.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320214.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000557154.6",
"protein_id": "ENSP00000451088.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320214.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557154.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000394366.6",
"protein_id": "ENSP00000377892.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394366.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000553521.5",
"protein_id": "ENSP00000452123.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553521.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.769C>T",
"hgvs_p": null,
"transcript": "ENST00000554465.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000556184.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000556184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.805C>T",
"hgvs_p": null,
"transcript": "ENST00000556587.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556587.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921631.1",
"protein_id": "ENSP00000591690.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 279,
"cds_start": 302,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921631.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921632.1",
"protein_id": "ENSP00000591691.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 279,
"cds_start": 302,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921632.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921636.1",
"protein_id": "ENSP00000591695.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 279,
"cds_start": 302,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921636.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "NM_001039465.2",
"protein_id": "NP_001034554.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039465.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "NM_006925.5",
"protein_id": "NP_008856.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006925.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000880758.1",
"protein_id": "ENSP00000550817.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880758.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000880760.1",
"protein_id": "ENSP00000550819.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880760.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000880766.1",
"protein_id": "ENSP00000550825.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880766.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000880767.1",
"protein_id": "ENSP00000550826.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880767.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921622.1",
"protein_id": "ENSP00000591681.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921622.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921626.1",
"protein_id": "ENSP00000591685.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921626.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921637.1",
"protein_id": "ENSP00000591696.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921637.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000921640.1",
"protein_id": "ENSP00000591698.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921640.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000960939.1",
"protein_id": "ENSP00000630998.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 272,
"cds_start": 302,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960939.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000880757.1",
"protein_id": "ENSP00000550816.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 271,
"cds_start": 302,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880757.1"
},
{
"aa_ref": "A",
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{
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"BS2"
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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
}