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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: 5-10286356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10286356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10286356,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_138809.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "NM_138809.4",
"protein_id": "NP_620164.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138809.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000296658.4",
"protein_id": "ENSP00000296658.3",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138809.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296658.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873541.1",
"protein_id": "ENSP00000543600.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 266,
"cds_start": 464,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873541.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873549.1",
"protein_id": "ENSP00000543608.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 266,
"cds_start": 464,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873549.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873555.1",
"protein_id": "ENSP00000543614.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 266,
"cds_start": 464,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873555.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873557.1",
"protein_id": "ENSP00000543616.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 266,
"cds_start": 464,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873557.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873539.1",
"protein_id": "ENSP00000543598.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873539.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873540.1",
"protein_id": "ENSP00000543599.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873540.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873542.1",
"protein_id": "ENSP00000543601.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873542.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873543.1",
"protein_id": "ENSP00000543602.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873543.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873545.1",
"protein_id": "ENSP00000543604.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873545.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873546.1",
"protein_id": "ENSP00000543605.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873546.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873550.1",
"protein_id": "ENSP00000543609.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873550.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873551.1",
"protein_id": "ENSP00000543610.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873551.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873552.1",
"protein_id": "ENSP00000543611.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873552.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873553.1",
"protein_id": "ENSP00000543612.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873553.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873554.1",
"protein_id": "ENSP00000543613.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873554.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000873556.1",
"protein_id": "ENSP00000543615.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 245,
"cds_start": 464,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873556.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Tyr152Cys",
"transcript": "ENST00000873547.1",
"protein_id": "ENSP00000543606.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 242,
"cds_start": 455,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873547.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000873544.1",
"protein_id": "ENSP00000543603.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 209,
"cds_start": 356,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873544.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMBL",
"gene_hgnc_id": 25090,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Tyr119Cys",
"transcript": "ENST00000941395.1",
"protein_id": "ENSP00000611454.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 209,
"cds_start": 356,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941395.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CMBL",
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{
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}