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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: 6-31161865-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31161865&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31161865,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438635.1",
"consequences": [
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_007109.3",
"protein_id": "NP_009040.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376257.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007109.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000376257.8",
"protein_id": "ENSP00000365433.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007109.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376257.8"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000376255.4",
"protein_id": "ENSP00000365431.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376255.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001438635.1",
"protein_id": "NP_001425564.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 488,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438635.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "NM_001438636.1",
"protein_id": "NP_001425565.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 488,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438636.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000706783.1",
"protein_id": "ENSP00000516548.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 488,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706783.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.His163Arg",
"transcript": "ENST00000706786.1",
"protein_id": "ENSP00000516550.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 488,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706786.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001077511.2",
"protein_id": "NP_001070979.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077511.2"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001318908.2",
"protein_id": "NP_001305837.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318908.2"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001438628.1",
"protein_id": "NP_001425557.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438628.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001438629.1",
"protein_id": "NP_001425558.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438629.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001438630.1",
"protein_id": "NP_001425559.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438630.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000706778.1",
"protein_id": "ENSP00000516543.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706778.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000706779.1",
"protein_id": "ENSP00000516544.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706779.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000706780.1",
"protein_id": "ENSP00000516545.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706780.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000706781.1",
"protein_id": "ENSP00000516546.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706781.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000706787.1",
"protein_id": "ENSP00000516551.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706787.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000866485.1",
"protein_id": "ENSP00000536545.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866485.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000971426.1",
"protein_id": "ENSP00000641485.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971426.1"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000971427.1",
"protein_id": "ENSP00000641486.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 345,
"cds_start": 657,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971427.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "ENST00000542218.2",
"protein_id": "ENSP00000439397.2",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 297,
"cds_start": 657,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542218.2"
},
{
"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": "TCF19",
"gene_hgnc_id": 11629,
"hgvs_c": "c.657A>G",
"hgvs_p": "p.Pro219Pro",
"transcript": "NM_001438631.1",
"protein_id": "NP_001425560.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 268,
"cds_start": 657,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438631.1"
},
{
"aa_ref": "P",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "NM_001438635.1",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}