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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: 14-30638135-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30638135&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30638135,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016106.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "NM_016106.4",
"protein_id": "NP_057190.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 642,
"cds_start": 323,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000458591.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000458591.7",
"protein_id": "ENSP00000390783.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 642,
"cds_start": 323,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "NM_016106.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.222-1642A>G",
"hgvs_p": null,
"transcript": "ENST00000555259.5",
"protein_id": "ENSP00000452323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.222-5181A>G",
"hgvs_p": null,
"transcript": "ENST00000556768.5",
"protein_id": "ENSP00000451811.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000676509.1",
"protein_id": "ENSP00000504739.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 641,
"cds_start": 323,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000676658.1",
"protein_id": "ENSP00000503347.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 620,
"cds_start": 323,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Asn83Ser",
"transcript": "ENST00000677340.1",
"protein_id": "ENSP00000504124.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 616,
"cds_start": 248,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000676812.1",
"protein_id": "ENSP00000504504.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 612,
"cds_start": 323,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000679165.1",
"protein_id": "ENSP00000503787.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 591,
"cds_start": 323,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.146A>G",
"hgvs_p": "p.Asn49Ser",
"transcript": "NM_001283032.1",
"protein_id": "NP_001269961.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 583,
"cds_start": 146,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "NM_182835.2",
"protein_id": "NP_878255.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 575,
"cds_start": 122,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "ENST00000544052.6",
"protein_id": "ENSP00000443010.2",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 575,
"cds_start": 122,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "ENST00000678124.1",
"protein_id": "ENSP00000503029.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 575,
"cds_start": 122,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "ENST00000677413.1",
"protein_id": "ENSP00000503070.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 572,
"cds_start": 113,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.47A>G",
"hgvs_p": "p.Asn16Ser",
"transcript": "NM_001257376.1",
"protein_id": "NP_001244305.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 550,
"cds_start": 47,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.47A>G",
"hgvs_p": "p.Asn16Ser",
"transcript": "ENST00000396629.6",
"protein_id": "ENSP00000379870.2",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 550,
"cds_start": 47,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000557076.6",
"protein_id": "ENSP00000450755.2",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 513,
"cds_start": 323,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "ENST00000553693.6",
"protein_id": "ENSP00000452308.2",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 410,
"cds_start": 122,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "ENST00000676954.1",
"protein_id": "ENSP00000504250.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 291,
"cds_start": 122,
"cds_end": null,
"cds_length": 876,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "ENST00000469043.2",
"protein_id": "ENSP00000452448.2",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 289,
"cds_start": 323,
"cds_end": null,
"cds_length": 870,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Asn83Ser",
"transcript": "XM_005267469.3",
"protein_id": "XP_005267526.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 617,
"cds_start": 248,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asn108Ser",
"transcript": "XM_047431165.1",
"protein_id": "XP_047287121.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 532,
"cds_start": 323,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Asn41Ser",
"transcript": "XM_047431166.1",
"protein_id": "XP_047287122.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
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},
{
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],
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}
],
"gene_symbol": "SCFD1",
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"dbsnp": "rs61760957",
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"hom_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16763031482696533,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.266,
"revel_prediction": "Benign",
"alphamissense_score": 0.0836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.751,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016106.4",
"gene_symbol": "SCFD1",
"hgnc_id": 20726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Asn108Ser"
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{
"score": -2,
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"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000781163.1",
"gene_symbol": "ENSG00000301732",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285-21741T>C",
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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
}