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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: 19-38729348-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38729348&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38729348,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001440296.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Ala884Ala",
"transcript": "NM_004924.6",
"protein_id": "NP_004915.2",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 911,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252699.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004924.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Ala884Ala",
"transcript": "ENST00000252699.7",
"protein_id": "ENSP00000252699.2",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 911,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004924.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252699.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Ala884Ala",
"transcript": "ENST00000424234.7",
"protein_id": "ENSP00000411187.4",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 911,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424234.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.1995G>A",
"hgvs_p": "p.Ala665Ala",
"transcript": "ENST00000390009.7",
"protein_id": "ENSP00000439497.1",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 692,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000390009.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2805G>A",
"hgvs_p": "p.Ala935Ala",
"transcript": "ENST00000871334.1",
"protein_id": "ENSP00000541393.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 962,
"cds_start": 2805,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871334.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2772G>A",
"hgvs_p": "p.Ala924Ala",
"transcript": "ENST00000871336.1",
"protein_id": "ENSP00000541395.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 951,
"cds_start": 2772,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871336.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2727G>A",
"hgvs_p": "p.Ala909Ala",
"transcript": "ENST00000871329.1",
"protein_id": "ENSP00000541388.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 936,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871329.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2727G>A",
"hgvs_p": "p.Ala909Ala",
"transcript": "ENST00000871331.1",
"protein_id": "ENSP00000541390.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 936,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871331.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Ala906Ala",
"transcript": "NM_001440296.1",
"protein_id": "NP_001427225.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 933,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440296.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Ala906Ala",
"transcript": "NM_001440300.1",
"protein_id": "NP_001427229.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 933,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440300.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Ala906Ala",
"transcript": "ENST00000871326.1",
"protein_id": "ENSP00000541385.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 933,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871326.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2718G>A",
"hgvs_p": "p.Ala906Ala",
"transcript": "ENST00000924369.1",
"protein_id": "ENSP00000594428.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 933,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924369.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2694G>A",
"hgvs_p": "p.Ala898Ala",
"transcript": "ENST00000871335.1",
"protein_id": "ENSP00000541394.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 925,
"cds_start": 2694,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871335.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Ala884Ala",
"transcript": "NM_001411143.1",
"protein_id": "NP_001398072.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 911,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411143.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2649G>A",
"hgvs_p": "p.Ala883Ala",
"transcript": "ENST00000924368.1",
"protein_id": "ENSP00000594427.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 910,
"cds_start": 2649,
"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": "ENST00000924368.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2646G>A",
"hgvs_p": "p.Ala882Ala",
"transcript": "ENST00000871327.1",
"protein_id": "ENSP00000541386.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 909,
"cds_start": 2646,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871327.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Ala881Ala",
"transcript": "ENST00000871325.1",
"protein_id": "ENSP00000541384.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 908,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871325.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Ala881Ala",
"transcript": "ENST00000871328.1",
"protein_id": "ENSP00000541387.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 908,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871328.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Ala879Ala",
"transcript": "NM_001322033.2",
"protein_id": "NP_001308962.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 906,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322033.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Ala879Ala",
"transcript": "NM_001440298.1",
"protein_id": "NP_001427227.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 906,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440298.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Ala879Ala",
"transcript": "ENST00000440400.3",
"protein_id": "ENSP00000398393.2",
"transcript_support_level": 5,
"aa_start": 879,
"aa_end": null,
"aa_length": 906,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440400.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Ala879Ala",
"transcript": "ENST00000871324.1",
"protein_id": "ENSP00000541383.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 906,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
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],
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],
"clinvar_disease": "Focal segmental glomerulosclerosis 1,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not provided|Focal segmental glomerulosclerosis 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}