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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: 6-43076969-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43076969&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43076969,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270398.2",
"consequences": [
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "NM_002821.5",
"protein_id": "NP_002812.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230419.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002821.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000230419.9",
"protein_id": "ENSP00000230419.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002821.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230419.9"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000345201.6",
"protein_id": "ENSP00000325992.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": null,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345201.6"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000352931.6",
"protein_id": "ENSP00000326029.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352931.6"
},
{
"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": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000349241.6",
"protein_id": "ENSP00000325462.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349241.6"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000471863.5",
"protein_id": "ENSP00000419037.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471863.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "n.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000230418.8",
"protein_id": "ENSP00000230418.4",
"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": "ENST00000230418.8"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "NM_001270398.2",
"protein_id": "NP_001257327.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1078,
"cds_start": 86,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270398.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "ENST00000481273.5",
"protein_id": "ENSP00000418754.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 1078,
"cds_start": 86,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481273.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "XM_011514765.3",
"protein_id": "XP_011513067.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1038,
"cds_start": 86,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514765.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "XM_011514766.3",
"protein_id": "XP_011513068.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 948,
"cds_start": 86,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514766.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His",
"transcript": "XM_047419157.1",
"protein_id": "XP_047275113.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 824,
"cds_start": 86,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419157.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000886109.1",
"protein_id": "ENSP00000556168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
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"cds_length": 3261,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886109.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000930017.1",
"protein_id": "ENSP00000600076.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000930017.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000971485.1",
"protein_id": "ENSP00000641544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": null,
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"cds_length": 3234,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971485.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000886108.1",
"protein_id": "ENSP00000556167.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000886108.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000930016.1",
"protein_id": "ENSP00000600075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": null,
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"cds_length": 3132,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930016.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "NM_152880.4",
"protein_id": "NP_690619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152880.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000971486.1",
"protein_id": "ENSP00000641545.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000971486.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "NM_152882.4",
"protein_id": "NP_690621.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152882.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000930014.1",
"protein_id": "ENSP00000600073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
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"cds_length": 3009,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930014.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTK7",
"gene_hgnc_id": 9618,
"hgvs_c": "c.79+402C>A",
"hgvs_p": null,
"transcript": "ENST00000886110.1",
"protein_id": "ENSP00000556169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": null,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886110.1"
},
{
"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": 18,
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"inheritance_mode": "AD",
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Pro29His"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000758810.1",
"gene_symbol": "KLC4-AS1",
"hgnc_id": 55228,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.251+91G>T",
"hgvs_p": null
}
],
"clinvar_disease": "PTK7-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PTK7-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}