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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: 1-35111873-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35111873&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 35111873,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024772.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "NM_024772.5",
"protein_id": "NP_079048.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359858.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024772.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000359858.9",
"protein_id": "ENSP00000352920.4",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024772.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359858.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000373330.1",
"protein_id": "ENSP00000362427.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "n.1019G>A",
"hgvs_p": null,
"transcript": "ENST00000373329.5",
"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": "ENST00000373329.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Asp362Asn",
"transcript": "ENST00000964799.1",
"protein_id": "ENSP00000634858.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1149,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964799.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Asp362Asn",
"transcript": "ENST00000964800.1",
"protein_id": "ENSP00000634859.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1149,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964800.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "NM_001289088.2",
"protein_id": "NP_001276017.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289088.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "NM_001289090.2",
"protein_id": "NP_001276019.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289090.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000611874.4",
"protein_id": "ENSP00000482579.1",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611874.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000650449.2",
"protein_id": "ENSP00000496876.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650449.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000905955.1",
"protein_id": "ENSP00000576014.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905955.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000931030.1",
"protein_id": "ENSP00000601089.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931030.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000931031.1",
"protein_id": "ENSP00000601090.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931031.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000931032.1",
"protein_id": "ENSP00000601091.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931032.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000931034.1",
"protein_id": "ENSP00000601093.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931034.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn",
"transcript": "ENST00000931035.1",
"protein_id": "ENSP00000601094.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931035.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000905956.1",
"protein_id": "ENSP00000576015.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905956.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000905958.1",
"protein_id": "ENSP00000576017.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905958.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000931028.1",
"protein_id": "ENSP00000601087.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931028.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000964801.1",
"protein_id": "ENSP00000634860.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964801.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Asp342Asn",
"transcript": "ENST00000931036.1",
"protein_id": "ENSP00000601095.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931036.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Asp336Asn",
"transcript": "NM_001289089.2",
"protein_id": "NP_001276018.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1006,
"cds_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488455.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"hgvs_c": "n.*96G>A",
"hgvs_p": null,
"transcript": "ENST00000463393.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000463393.1"
}
],
"gene_symbol": "ZMYM1",
"gene_hgnc_id": 26253,
"dbsnp": "rs778901777",
"frequency_reference_population": 0.000040545532,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000413506,
"gnomad_genomes_af": 0.0000328666,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07017648220062256,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.107,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024772.5",
"gene_symbol": "ZMYM1",
"hgnc_id": 26253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Asp355Asn"
}
],
"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
}