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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: 16-28605835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28605835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28605835,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001055.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001055.4",
"protein_id": "NP_001046.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314752.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001055.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000314752.12",
"protein_id": "ENSP00000321988.7",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001055.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314752.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000569554.5",
"protein_id": "ENSP00000457912.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569554.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289755",
"gene_hgnc_id": null,
"hgvs_c": "n.1633C>T",
"hgvs_p": null,
"transcript": "ENST00000562058.5",
"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": "ENST00000562058.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289755",
"gene_hgnc_id": null,
"hgvs_c": "n.1405C>T",
"hgvs_p": null,
"transcript": "ENST00000564818.5",
"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": "ENST00000564818.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000898554.1",
"protein_id": "ENSP00000568613.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 320,
"cds_start": 949,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898554.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys",
"transcript": "ENST00000915946.1",
"protein_id": "ENSP00000586005.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 317,
"cds_start": 940,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915946.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "ENST00000957341.1",
"protein_id": "ENSP00000627400.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 314,
"cds_start": 931,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957341.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000898572.1",
"protein_id": "ENSP00000568631.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 301,
"cds_start": 892,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898572.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000957339.1",
"protein_id": "ENSP00000627398.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 301,
"cds_start": 892,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957339.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001394421.1",
"protein_id": "NP_001381350.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394421.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001394422.1",
"protein_id": "NP_001381351.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394422.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001394423.1",
"protein_id": "NP_001381352.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394423.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001394424.1",
"protein_id": "NP_001381353.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394424.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_001394425.1",
"protein_id": "NP_001381354.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394425.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_177529.3",
"protein_id": "NP_803565.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177529.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_177530.4",
"protein_id": "NP_803566.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177530.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "NM_177534.4",
"protein_id": "NP_803878.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177534.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000898553.1",
"protein_id": "ENSP00000568612.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898553.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000898555.1",
"protein_id": "ENSP00000568614.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898555.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000898556.1",
"protein_id": "ENSP00000568615.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898556.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A1",
"gene_hgnc_id": 11453,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Cys",
"transcript": "ENST00000898557.1",
"protein_id": "ENSP00000568616.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 295,
"cds_start": 874,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001055.4",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000562058.5",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567998.5",
"gene_symbol": "ENSG00000293550",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.7704C>T",
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},
{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000677940.1",
"gene_symbol": "ENSG00000288656",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.305-12267C>T",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000679262.2",
"gene_symbol": "ENSG00000289754",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.71+14228C>T",
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}
],
"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
}