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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: 1-35557258-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35557258&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 35557258,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000325722.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "NM_024874.5",
"protein_id": "NP_079150.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": "ENST00000325722.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"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": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000325722.8",
"protein_id": "ENSP00000318406.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": "NM_024874.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "NM_024874.5",
"protein_id": "NP_079150.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": "ENST00000325722.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000325722.8",
"protein_id": "ENSP00000318406.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": "NM_024874.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697002.1",
"protein_id": "ENSP00000513032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697010.1",
"protein_id": "ENSP00000513040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697011.1",
"protein_id": "ENSP00000513041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697009.1",
"protein_id": "ENSP00000513039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000461312.6",
"protein_id": "ENSP00000513058.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697000.1",
"protein_id": "ENSP00000513030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697003.1",
"protein_id": "ENSP00000513033.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
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"transcript": "ENST00000697005.1",
"protein_id": "ENSP00000513035.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "KIAA0319L",
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"hgvs_c": "n.-80G>T",
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"transcript": "ENST00000697006.1",
"protein_id": "ENSP00000513036.1",
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},
{
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],
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"gene_symbol": "KIAA0319L",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697008.1",
"protein_id": "ENSP00000513038.1",
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},
{
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],
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"gene_symbol": "KIAA0319L",
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},
{
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"strand": false,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697015.1",
"protein_id": "ENSP00000513045.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697016.1",
"protein_id": "ENSP00000513046.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": 1,
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"intron_rank": null,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "KIAA0319L",
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"hgvs_c": "n.-80G>T",
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},
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],
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"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697019.1",
"protein_id": "ENSP00000513049.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "KIAA0319L",
"gene_hgnc_id": 30071,
"hgvs_c": "n.-80G>T",
"hgvs_p": null,
"transcript": "ENST00000697020.1",
"protein_id": "ENSP00000513050.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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}