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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: 4-5783681-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=5783681&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 5783681,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000264956.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "NM_153717.3",
"protein_id": "NP_714928.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": "ENST00000264956.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "ENST00000264956.11",
"protein_id": "ENSP00000264956.6",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": "NM_153717.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "NM_001306090.2",
"protein_id": "NP_001293019.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 991,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449769.1",
"protein_id": "XP_047305725.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 13268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449770.1",
"protein_id": "XP_047305726.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449771.1",
"protein_id": "XP_047305727.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 7537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449772.1",
"protein_id": "XP_047305728.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449773.1",
"protein_id": "XP_047305729.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 12617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449774.1",
"protein_id": "XP_047305730.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 16397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449775.1",
"protein_id": "XP_047305731.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 11121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449776.1",
"protein_id": "XP_047305732.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 12433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449777.1",
"protein_id": "XP_047305733.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cds_length": 2979,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 12571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449778.1",
"protein_id": "XP_047305734.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 12755,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449779.1",
"protein_id": "XP_047305735.1",
"transcript_support_level": null,
"aa_start": 565,
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"cds_start": 1694,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449780.1",
"protein_id": "XP_047305736.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 11973,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449781.1",
"protein_id": "XP_047305737.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449782.1",
"protein_id": "XP_047305738.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cdna_start": 1874,
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"cdna_length": 7493,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449783.1",
"protein_id": "XP_047305739.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 11077,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449784.1",
"protein_id": "XP_047305740.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449785.1",
"protein_id": "XP_047305741.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
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"cdna_start": 1874,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449786.1",
"protein_id": "XP_047305742.1",
"transcript_support_level": null,
"aa_start": 565,
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"cdna_start": 1874,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449787.1",
"protein_id": "XP_047305743.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 992,
"cds_start": 1694,
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"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 7209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs",
"transcript": "XM_047449788.1",
"protein_id": "XP_047305744.1",
"transcript_support_level": null,
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"hgvs_c": "n.1648-35370delG",
"hgvs_p": null,
"transcript": "ENST00000506216.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EVC",
"gene_hgnc_id": 3497,
"dbsnp": "rs753014919",
"frequency_reference_population": 0.0000532874,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000472045,
"gnomad_genomes_af": 0.000111722,
"gnomad_exomes_ac": 69,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.564,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264956.11",
"gene_symbol": "EVC",
"hgnc_id": 3497,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1694delC",
"hgvs_p": "p.Ala565fs"
},
{
"score": 4,
"benign_score": 4,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000506216.5",
"gene_symbol": "CRMP1",
"hgnc_id": 2365,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.1648-35370delG",
"hgvs_p": null
}
],
"clinvar_disease": "Curry-Hall syndrome,Ellis-van Creveld syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Ellis-van Creveld syndrome|Curry-Hall syndrome;Ellis-van Creveld syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}