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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: 14-30638167-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30638167&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30638167,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000458591.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "NM_016106.4",
"protein_id": "NP_057190.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 642,
"cds_start": 355,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000458591.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000458591.7",
"protein_id": "ENSP00000390783.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 642,
"cds_start": 355,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 375,
"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.222-1610A>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.222-5149A>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_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.-123A>G",
"hgvs_p": null,
"transcript": "ENST00000676520.1",
"protein_id": "ENSP00000504658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"transcript": "ENST00000678716.1",
"protein_id": "ENSP00000503125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_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.-113A>G",
"hgvs_p": null,
"transcript": "NM_001283031.1",
"protein_id": "NP_001269960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"transcript": "ENST00000678579.1",
"protein_id": "ENSP00000503776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000676509.1",
"protein_id": "ENSP00000504739.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 641,
"cds_start": 355,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000676658.1",
"protein_id": "ENSP00000503347.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 620,
"cds_start": 355,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000677340.1",
"protein_id": "ENSP00000504124.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 616,
"cds_start": 280,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000676812.1",
"protein_id": "ENSP00000504504.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 612,
"cds_start": 355,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000679165.1",
"protein_id": "ENSP00000503787.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 591,
"cds_start": 355,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.178A>G",
"hgvs_p": "p.Ile60Val",
"transcript": "NM_001283032.1",
"protein_id": "NP_001269961.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 583,
"cds_start": 178,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Ile52Val",
"transcript": "NM_182835.2",
"protein_id": "NP_878255.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 575,
"cds_start": 154,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Ile52Val",
"transcript": "ENST00000544052.6",
"protein_id": "ENSP00000443010.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 575,
"cds_start": 154,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Ile52Val",
"transcript": "ENST00000678124.1",
"protein_id": "ENSP00000503029.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 575,
"cds_start": 154,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.145A>G",
"hgvs_p": "p.Ile49Val",
"transcript": "ENST00000677413.1",
"protein_id": "ENSP00000503070.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 572,
"cds_start": 145,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.79A>G",
"hgvs_p": "p.Ile27Val",
"transcript": "NM_001257376.1",
"protein_id": "NP_001244305.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 550,
"cds_start": 79,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.79A>G",
"hgvs_p": "p.Ile27Val",
"transcript": "ENST00000396629.6",
"protein_id": "ENSP00000379870.2",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 550,
"cds_start": 79,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.355A>G",
"hgvs_p": "p.Ile119Val",
"transcript": "ENST00000557076.6",
"protein_id": "ENSP00000450755.2",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 513,
"cds_start": 355,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Ile52Val",
"transcript": "ENST00000553693.6",
"protein_id": "ENSP00000452308.2",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 410,
"cds_start": 154,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Ile52Val",
"transcript": "ENST00000676954.1",
"protein_id": "ENSP00000504250.1",
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{
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{
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"verdict": "Uncertain_significance",
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],
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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
}