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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: 2-159743214-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159743214&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159743214,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409175.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001282805.2",
"protein_id": "NP_001269734.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "ENST00000409175.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "ENST00000409175.6",
"protein_id": "ENSP00000386830.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "NM_001282805.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "ENST00000259050.8",
"protein_id": "ENSP00000259050.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376234.1",
"protein_id": "NP_001363163.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376235.1",
"protein_id": "NP_001363164.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376236.1",
"protein_id": "NP_001363165.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376237.1",
"protein_id": "NP_001363166.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376238.1",
"protein_id": "NP_001363167.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376239.1",
"protein_id": "NP_001363168.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376240.1",
"protein_id": "NP_001363169.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376241.1",
"protein_id": "NP_001363170.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376242.1",
"protein_id": "NP_001363171.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_022826.4",
"protein_id": "NP_073737.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 704,
"cds_start": 307,
"cds_end": null,
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"cdna_start": 422,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376243.1",
"protein_id": "NP_001363172.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 697,
"cds_start": 307,
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"cdna_start": 477,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376244.1",
"protein_id": "NP_001363173.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 691,
"cds_start": 307,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376245.1",
"protein_id": "NP_001363174.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
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"cds_start": 307,
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"cdna_start": 422,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Ala80Ser",
"transcript": "NM_001376246.1",
"protein_id": "NP_001363175.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 681,
"cds_start": 238,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.193G>T",
"hgvs_p": "p.Ala65Ser",
"transcript": "NM_001282807.2",
"protein_id": "NP_001269736.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 666,
"cds_start": 193,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 5766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.193G>T",
"hgvs_p": "p.Ala65Ser",
"transcript": "ENST00000409591.5",
"protein_id": "ENSP00000387238.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 666,
"cds_start": 193,
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"cdna_start": 272,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376247.1",
"protein_id": "NP_001363176.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 648,
"cds_start": 307,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 422,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001376248.1",
"protein_id": "NP_001363177.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 648,
"cds_start": 307,
"cds_end": null,
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"cdna_start": 477,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "NM_001282806.2",
"protein_id": "NP_001269735.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 635,
"cds_start": 307,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF7",
"gene_hgnc_id": 17393,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Ala103Ser",
"transcript": "ENST00000539065.5",
"protein_id": "ENSP00000442992.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.69,
"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,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000409175.6",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.307G>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
}