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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: 14-30643343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30643343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30643343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000458591.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "NM_016106.4",
"protein_id": "NP_057190.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 642,
"cds_start": 551,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000458591.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000458591.7",
"protein_id": "ENSP00000390783.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 642,
"cds_start": 551,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 571,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.337C>T",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.*21C>T",
"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": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.*21C>T",
"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": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.-5C>T",
"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": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.-5C>T",
"hgvs_p": null,
"transcript": "NM_001283033.1",
"protein_id": "NP_001269962.1",
"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": 1931,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.-5C>T",
"hgvs_p": null,
"transcript": "ENST00000676674.1",
"protein_id": "ENSP00000502860.1",
"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": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000676509.1",
"protein_id": "ENSP00000504739.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 641,
"cds_start": 551,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000676658.1",
"protein_id": "ENSP00000503347.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 620,
"cds_start": 551,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Thr159Met",
"transcript": "ENST00000677340.1",
"protein_id": "ENSP00000504124.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 616,
"cds_start": 476,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Thr143Met",
"transcript": "ENST00000678402.1",
"protein_id": "ENSP00000503444.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 601,
"cds_start": 428,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Met",
"transcript": "ENST00000678669.1",
"protein_id": "ENSP00000504126.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 592,
"cds_start": 401,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000679165.1",
"protein_id": "ENSP00000503787.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 591,
"cds_start": 551,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Met",
"transcript": "NM_001283032.1",
"protein_id": "NP_001269961.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 583,
"cds_start": 374,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "NM_182835.2",
"protein_id": "NP_878255.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 575,
"cds_start": 350,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "ENST00000544052.6",
"protein_id": "ENSP00000443010.2",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 575,
"cds_start": 350,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "ENST00000678124.1",
"protein_id": "ENSP00000503029.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 575,
"cds_start": 350,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000677413.1",
"protein_id": "ENSP00000503070.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 572,
"cds_start": 341,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Thr92Met",
"transcript": "NM_001257376.1",
"protein_id": "NP_001244305.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 550,
"cds_start": 275,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Thr92Met",
"transcript": "ENST00000396629.6",
"protein_id": "ENSP00000379870.2",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 550,
"cds_start": 275,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000557076.6",
"protein_id": "ENSP00000450755.2",
"transcript_support_level": 3,
"aa_start": 184,
"aa_end": null,
"aa_length": 513,
"cds_start": 551,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Met",
"transcript": "ENST00000676520.1",
"protein_id": "ENSP00000504658.1",
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{
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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
}