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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: 1-92513963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92513963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92513963,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350197.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "NM_001350197.2",
"protein_id": "NP_001337126.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684568.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350197.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "ENST00000684568.2",
"protein_id": "ENSP00000506999.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350197.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684568.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2159G>A",
"hgvs_p": "p.Cys720Tyr",
"transcript": "ENST00000540033.3",
"protein_id": "ENSP00000440826.2",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 821,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540033.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Cys709Tyr",
"transcript": "ENST00000370331.5",
"protein_id": "ENSP00000359356.1",
"transcript_support_level": 1,
"aa_start": 709,
"aa_end": null,
"aa_length": 810,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370331.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "ENST00000706846.1",
"protein_id": "ENSP00000516588.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706846.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "ENST00000948805.1",
"protein_id": "ENSP00000618864.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948805.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "ENST00000948806.1",
"protein_id": "ENSP00000618865.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948806.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Cys725Tyr",
"transcript": "ENST00000948814.1",
"protein_id": "ENSP00000618873.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948814.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2159G>A",
"hgvs_p": "p.Cys720Tyr",
"transcript": "NM_001308248.2",
"protein_id": "NP_001295177.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 821,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308248.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Cys717Tyr",
"transcript": "NM_001377210.1",
"protein_id": "NP_001364139.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 818,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377210.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Cys717Tyr",
"transcript": "ENST00000706843.1",
"protein_id": "ENSP00000516584.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 818,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706843.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Cys711Tyr",
"transcript": "ENST00000948811.1",
"protein_id": "ENSP00000618870.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 812,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948811.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Cys709Tyr",
"transcript": "NM_005665.6",
"protein_id": "NP_005656.4",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 810,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005665.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000948813.1",
"protein_id": "ENSP00000618872.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 799,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948813.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Cys692Tyr",
"transcript": "ENST00000933839.1",
"protein_id": "ENSP00000603898.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 793,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933839.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Cys680Tyr",
"transcript": "ENST00000706885.1",
"protein_id": "ENSP00000516601.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 781,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706885.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Cys679Tyr",
"transcript": "NM_001377211.1",
"protein_id": "NP_001364140.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 780,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377211.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Cys676Tyr",
"transcript": "NM_001377212.1",
"protein_id": "NP_001364141.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 777,
"cds_start": 2027,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377212.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Cys665Tyr",
"transcript": "ENST00000933837.1",
"protein_id": "ENSP00000603896.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 766,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933837.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Cys665Tyr",
"transcript": "ENST00000948809.1",
"protein_id": "ENSP00000618868.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 766,
"cds_start": 1994,
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"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948809.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Cys665Tyr",
"transcript": "ENST00000948815.1",
"protein_id": "ENSP00000618874.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 766,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948815.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVI5",
"gene_hgnc_id": 3501,
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Cys662Tyr",
"transcript": "ENST00000933840.1",
"protein_id": "ENSP00000603899.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 763,
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.1899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.7,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001350197.2",
"gene_symbol": "EVI5",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.2174G>A",
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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
}