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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: 1-42463308-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42463308&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42463308,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000657597.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "NM_001395517.1",
"protein_id": "NP_001382446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "ENST00000657597.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000657597.2",
"protein_id": "ENSP00000499662.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "NM_001395517.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "NM_001395517.1",
"protein_id": "NP_001382446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "ENST00000657597.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000657597.2",
"protein_id": "ENSP00000499662.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "NM_001395517.1",
"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": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "NM_001395379.1",
"protein_id": "NP_001382308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"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": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "NM_001395382.1",
"protein_id": "NP_001382311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5999,
"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": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-441A>T",
"hgvs_p": null,
"transcript": "NM_001395383.1",
"protein_id": "NP_001382312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5758,
"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": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-711A>T",
"hgvs_p": null,
"transcript": "NM_001395384.1",
"protein_id": "NP_001382313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6028,
"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": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-674A>T",
"hgvs_p": null,
"transcript": "NM_001395385.1",
"protein_id": "NP_001382314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5991,
"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": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-711A>T",
"hgvs_p": null,
"transcript": "ENST00000660083.1",
"protein_id": "ENSP00000499483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-441A>T",
"hgvs_p": null,
"transcript": "ENST00000667205.1",
"protein_id": "ENSP00000499722.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 710,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000668663.1",
"protein_id": "ENSP00000499699.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-2095A>T",
"hgvs_p": null,
"transcript": "NM_001355224.2",
"protein_id": "NP_001342153.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-1758A>T",
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"transcript": "NM_001355227.2",
"protein_id": "NP_001342156.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-441A>T",
"hgvs_p": null,
"transcript": "ENST00000655164.1",
"protein_id": "ENSP00000499756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.-682A>T",
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"transcript": "ENST00000654683.1",
"protein_id": "ENSP00000499720.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000667947.1",
"protein_id": "ENSP00000499262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000658812.1",
"protein_id": "ENSP00000499738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
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"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "CCDC30",
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"hgvs_c": "n.-682A>T",
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"transcript": "ENST00000660938.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.-674A>T",
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"transcript": "ENST00000665812.1",
"protein_id": "ENSP00000499766.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.-682A>T",
"hgvs_p": null,
"transcript": "ENST00000669138.1",
"protein_id": "ENSP00000499594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1798,
"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": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-682A>T",
"hgvs_p": null,
"transcript": "XM_047429779.1",
"protein_id": "XP_047285735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
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"cds_length": 1383,
"cdna_start": null,
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"cdna_length": 2103,
"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": 1,
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}