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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: 1-92695345-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92695345&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92695345,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350197.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "NM_001350197.2",
"protein_id": "NP_001337126.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "ENST00000684568.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350197.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000684568.2",
"protein_id": "ENSP00000506999.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": "NM_001350197.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684568.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Ile336Val",
"transcript": "ENST00000540033.3",
"protein_id": "ENSP00000440826.2",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 821,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540033.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Ile336Val",
"transcript": "ENST00000370331.5",
"protein_id": "ENSP00000359356.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 810,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370331.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000706846.1",
"protein_id": "ENSP00000516588.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706846.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948805.1",
"protein_id": "ENSP00000618864.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948805.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948806.1",
"protein_id": "ENSP00000618865.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948806.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948814.1",
"protein_id": "ENSP00000618873.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 826,
"cds_start": 874,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948814.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Ile336Val",
"transcript": "NM_001308248.2",
"protein_id": "NP_001295177.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 821,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 7442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308248.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Ile333Val",
"transcript": "NM_001377210.1",
"protein_id": "NP_001364139.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 818,
"cds_start": 997,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 8230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377210.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Ile333Val",
"transcript": "ENST00000706843.1",
"protein_id": "ENSP00000516584.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 818,
"cds_start": 997,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706843.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948811.1",
"protein_id": "ENSP00000618870.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 812,
"cds_start": 874,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948811.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Ile336Val",
"transcript": "NM_005665.6",
"protein_id": "NP_005656.4",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 810,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 7409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005665.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948813.1",
"protein_id": "ENSP00000618872.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 799,
"cds_start": 874,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948813.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Ile319Val",
"transcript": "ENST00000933839.1",
"protein_id": "ENSP00000603898.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 793,
"cds_start": 955,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933839.1"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.739A>G",
"hgvs_p": "p.Ile247Val",
"transcript": "ENST00000706885.1",
"protein_id": "ENSP00000516601.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 781,
"cds_start": 739,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 7389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706885.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "NM_001377211.1",
"protein_id": "NP_001364140.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 780,
"cds_start": 874,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377211.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "NM_001377212.1",
"protein_id": "NP_001364141.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 777,
"cds_start": 874,
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"cdna_start": 1228,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377212.1"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Ile319Val",
"transcript": "NM_001377213.1",
"protein_id": "NP_001364142.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 768,
"cds_start": 955,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377213.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Ile319Val",
"transcript": "ENST00000706867.1",
"protein_id": "ENSP00000516594.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 768,
"cds_start": 955,
"cds_end": null,
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"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706867.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000933837.1",
"protein_id": "ENSP00000603896.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 766,
"cds_start": 874,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933837.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Ile292Val",
"transcript": "ENST00000948809.1",
"protein_id": "ENSP00000618868.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 766,
"cds_start": 874,
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{
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"pathogenic_score": 0,
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"BP6_Very_Strong",
"BA1"
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"verdict": "Benign",
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}