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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: 1-155015779-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155015779&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155015779,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001252406.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "NM_001256455.2",
"protein_id": "NP_001243384.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535420.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256455.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000535420.6",
"protein_id": "ENSP00000438647.1",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256455.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535420.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000292176.2",
"protein_id": "ENSP00000292176.2",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292176.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000368426.3",
"protein_id": "ENSP00000357411.3",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368426.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1221C>A",
"hgvs_p": "p.Pro407Pro",
"transcript": "NM_001252406.3",
"protein_id": "NP_001239335.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 573,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252406.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1221C>A",
"hgvs_p": "p.Pro407Pro",
"transcript": "NM_001377451.1",
"protein_id": "NP_001364380.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 573,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377451.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1221C>A",
"hgvs_p": "p.Pro407Pro",
"transcript": "ENST00000417934.6",
"protein_id": "ENSP00000406286.2",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 573,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417934.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "NM_001377452.1",
"protein_id": "NP_001364381.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377452.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "NM_001377453.1",
"protein_id": "NP_001364382.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377453.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "NM_001377454.1",
"protein_id": "NP_001364383.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377454.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "NM_001377455.1",
"protein_id": "NP_001364384.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377455.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890634.1",
"protein_id": "ENSP00000560693.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890634.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890635.1",
"protein_id": "ENSP00000560694.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890635.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890636.1",
"protein_id": "ENSP00000560695.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890636.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890637.1",
"protein_id": "ENSP00000560696.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890637.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890638.1",
"protein_id": "ENSP00000560697.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890638.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890639.1",
"protein_id": "ENSP00000560698.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890639.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890640.1",
"protein_id": "ENSP00000560699.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890640.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890641.1",
"protein_id": "ENSP00000560700.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890641.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890642.1",
"protein_id": "ENSP00000560701.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890642.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890643.1",
"protein_id": "ENSP00000560702.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890643.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB7B",
"gene_hgnc_id": 18668,
"hgvs_c": "c.1119C>A",
"hgvs_p": "p.Pro373Pro",
"transcript": "ENST00000890644.1",
"protein_id": "ENSP00000560703.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 539,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1620,
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],
"gene_symbol": "ZBTB7B",
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
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"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}