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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: 8-24313543-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=24313543&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 24313543,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014265.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "NM_014265.6",
"protein_id": "NP_055080.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 775,
"cds_start": 539,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265769.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014265.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000265769.9",
"protein_id": "ENSP00000265769.4",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 775,
"cds_start": 539,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014265.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265769.9"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000437154.6",
"protein_id": "ENSP00000393699.2",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 540,
"cds_start": 539,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437154.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000699027.1",
"protein_id": "ENSP00000514095.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 796,
"cds_start": 539,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699027.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000904759.1",
"protein_id": "ENSP00000574818.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 767,
"cds_start": 539,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904759.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "NM_001304351.2",
"protein_id": "NP_001291280.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 754,
"cds_start": 539,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304351.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000950408.1",
"protein_id": "ENSP00000620467.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 746,
"cds_start": 539,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950408.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "ENST00000904758.1",
"protein_id": "ENSP00000574817.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 732,
"cds_start": 539,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904758.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "NM_021777.5",
"protein_id": "NP_068547.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 540,
"cds_start": 539,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021777.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_006716273.4",
"protein_id": "XP_006716336.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 767,
"cds_start": 539,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716273.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_011544367.4",
"protein_id": "XP_011542669.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 746,
"cds_start": 539,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544367.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_017012974.3",
"protein_id": "XP_016868463.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 741,
"cds_start": 539,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012974.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_005273380.5",
"protein_id": "XP_005273437.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 736,
"cds_start": 539,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273380.5"
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_047421270.1",
"protein_id": "XP_047277226.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 736,
"cds_start": 539,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421270.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_017012975.3",
"protein_id": "XP_016868464.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 732,
"cds_start": 539,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012975.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_006716274.2",
"protein_id": "XP_006716337.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 728,
"cds_start": 539,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716274.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_011544368.4",
"protein_id": "XP_011542670.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 728,
"cds_start": 539,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544368.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_047421271.1",
"protein_id": "XP_047277227.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 727,
"cds_start": 539,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421271.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.359T>C",
"hgvs_p": "p.Leu120Ser",
"transcript": "XM_047421272.1",
"protein_id": "XP_047277228.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 715,
"cds_start": 359,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421272.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_011544369.3",
"protein_id": "XP_011542671.1",
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"aa_start": 180,
"aa_end": null,
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"cds_start": 539,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544369.3"
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.539T>C",
"hgvs_p": "p.Leu180Ser",
"transcript": "XM_005273382.2",
"protein_id": "XP_005273439.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 621,
"cds_start": 539,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273382.2"
},
{
"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": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADAM28",
"gene_hgnc_id": 206,
"hgvs_c": "c.306+3302T>C",
"hgvs_p": null,
"transcript": "ENST00000904760.1",
"protein_id": "ENSP00000574819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904760.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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],
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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
}