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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: 1-147252666-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=147252666&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 147252666,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001348451.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "NM_004284.6",
"protein_id": "NP_004275.4",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 897,
"cds_start": 171,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369258.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004284.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000369258.8",
"protein_id": "ENSP00000358262.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 897,
"cds_start": 171,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004284.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369258.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.127+9836C>T",
"hgvs_p": null,
"transcript": "ENST00000369259.4",
"protein_id": "ENSP00000358263.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369259.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.171C>T",
"hgvs_p": null,
"transcript": "ENST00000467213.5",
"protein_id": "ENSP00000477985.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000467213.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "NM_001348451.2",
"protein_id": "NP_001335380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348451.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "NM_001348452.2",
"protein_id": "NP_001335381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348452.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "ENST00000431239.6",
"protein_id": "ENSP00000389031.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431239.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-23C>T",
"hgvs_p": null,
"transcript": "NM_001256336.3",
"protein_id": "NP_001243265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256336.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-141C>T",
"hgvs_p": null,
"transcript": "NM_024568.4",
"protein_id": "NP_078844.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": null,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024568.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-287C>T",
"hgvs_p": null,
"transcript": "NM_001348455.2",
"protein_id": "NP_001335384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-584C>T",
"hgvs_p": null,
"transcript": "NM_001348458.2",
"protein_id": "NP_001335387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348458.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-510C>T",
"hgvs_p": null,
"transcript": "NM_001348460.2",
"protein_id": "NP_001335389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348460.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-666C>T",
"hgvs_p": null,
"transcript": "NM_001348462.2",
"protein_id": "NP_001335391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.-591C>T",
"hgvs_p": null,
"transcript": "NM_001348465.2",
"protein_id": "NP_001335394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348465.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000866233.1",
"protein_id": "ENSP00000536292.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 927,
"cds_start": 171,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866233.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000917457.1",
"protein_id": "ENSP00000587516.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 921,
"cds_start": 171,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917457.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000866229.1",
"protein_id": "ENSP00000536288.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 910,
"cds_start": 171,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866229.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000866232.1",
"protein_id": "ENSP00000536291.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 900,
"cds_start": 171,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866232.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000866231.1",
"protein_id": "ENSP00000536290.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 889,
"cds_start": 171,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866231.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000917448.1",
"protein_id": "ENSP00000587507.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 887,
"cds_start": 171,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917448.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000866234.1",
"protein_id": "ENSP00000536293.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 882,
"cds_start": 171,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866234.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Leu57Leu",
"transcript": "ENST00000949387.1",
"protein_id": "ENSP00000619446.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 870,
"cds_start": 171,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -9,
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"BP6",
"BS2"
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"verdict": "Benign",
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"gene_symbol": "CHD1L",
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"effects": [
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{
"score": -5,
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"BP6"
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "CHD1L-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CHD1L-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}