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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: 4-158672396-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158672396&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158672396,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_004453.4",
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "NM_004453.4",
"protein_id": "NP_004444.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "ENST00000511912.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004453.4"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000511912.6",
"protein_id": "ENSP00000426638.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "NM_004453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511912.6"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "NM_004453.4",
"protein_id": "NP_004444.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "ENST00000511912.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004453.4"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000511912.6",
"protein_id": "ENSP00000426638.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "NM_004453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511912.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.81C>T",
"hgvs_p": null,
"transcript": "ENST00000510353.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510353.5"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000684622.1",
"protein_id": "ENSP00000507546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684622.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000908056.1",
"protein_id": "ENSP00000578115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908056.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000908057.1",
"protein_id": "ENSP00000578116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908057.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000935955.1",
"protein_id": "ENSP00000606014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935955.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000953090.1",
"protein_id": "ENSP00000623149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953090.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000684505.1",
"protein_id": "ENSP00000508237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684505.1"
},
{
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"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": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "NM_001281737.2",
"protein_id": "NP_001268666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
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"cds_length": 1713,
"cdna_start": null,
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"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281737.2"
},
{
"aa_ref": 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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000307738.5",
"protein_id": "ENSP00000303552.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
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"cds_length": 1713,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307738.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000682456.1",
"protein_id": "ENSP00000508240.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682456.1"
},
{
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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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000683483.1",
"protein_id": "ENSP00000507719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683483.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-147C>T",
"hgvs_p": null,
"transcript": "ENST00000683305.1",
"protein_id": "ENSP00000508043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1671,
"cdna_start": null,
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"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683305.1"
},
{
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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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-474C>T",
"hgvs_p": null,
"transcript": "ENST00000684036.1",
"protein_id": "ENSP00000507276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
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"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684036.1"
},
{
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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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-632C>T",
"hgvs_p": null,
"transcript": "ENST00000684627.1",
"protein_id": "ENSP00000507471.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000908058.1",
"protein_id": "ENSP00000578117.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000908058.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000953092.1",
"protein_id": "ENSP00000623151.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953092.1"
},
{
"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": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000953091.1",
"protein_id": "ENSP00000623150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953091.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000684641.1",
"protein_id": "ENSP00000507642.1",
"transcript_support_level": null,
"aa_start": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Multiple acyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}