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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: 6-31158000-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31158000&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31158000,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000502557.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-52+167G>T",
"hgvs_p": null,
"transcript": "ENST00000376266.9",
"protein_id": "ENSP00000365442.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "n.24+171G>T",
"hgvs_p": null,
"transcript": "ENST00000509552.5",
"protein_id": null,
"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": 2304,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "ENST00000448162.6",
"protein_id": "ENSP00000390027.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-167G>T",
"hgvs_p": null,
"transcript": "ENST00000502557.5",
"protein_id": "ENSP00000425377.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "ENST00000507892.1",
"protein_id": "ENSP00000424164.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "XM_017010963.2",
"protein_id": "XP_016866452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2752,
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-235G>T",
"hgvs_p": null,
"transcript": "XM_047418909.1",
"protein_id": "XP_047274865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2934,
"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": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-119G>T",
"hgvs_p": null,
"transcript": "XM_047418910.1",
"protein_id": "XP_047274866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "ENST00000448162.6",
"protein_id": "ENSP00000390027.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "ENST00000507892.1",
"protein_id": "ENSP00000424164.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "XM_017010963.2",
"protein_id": "XP_016866452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
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"cds_length": 2349,
"cdna_start": null,
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"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-235G>T",
"hgvs_p": null,
"transcript": "XM_047418909.1",
"protein_id": "XP_047274865.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-119G>T",
"hgvs_p": null,
"transcript": "XM_047418910.1",
"protein_id": "XP_047274866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "ENST00000448162.6",
"protein_id": "ENSP00000390027.2",
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-167G>T",
"hgvs_p": null,
"transcript": "ENST00000502557.5",
"protein_id": "ENSP00000425377.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "ENST00000507892.1",
"protein_id": "ENSP00000424164.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
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"cds_length": 123,
"cdna_start": null,
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"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-196G>T",
"hgvs_p": null,
"transcript": "XM_017010963.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-53G>T",
"hgvs_p": null,
"transcript": "XM_017010964.2",
"protein_id": "XP_016866453.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-235G>T",
"hgvs_p": null,
"transcript": "XM_047418909.1",
"protein_id": "XP_047274865.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-119G>T",
"hgvs_p": null,
"transcript": "XM_047418910.1",
"protein_id": "XP_047274866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.-168+167G>T",
"hgvs_p": null,
"transcript": "NM_001394642.1",
"protein_id": "NP_001381571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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