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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: 10-69343841-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69343841&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69343841,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000359426.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "NM_001358263.1",
"protein_id": "NP_001345192.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "ENST00000643399.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "ENST00000643399.2",
"protein_id": "ENSP00000494664.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "NM_001358263.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.78C>G",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_000188.3",
"protein_id": "NP_000179.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 917,
"cds_start": 78,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "ENST00000359426.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.78C>G",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000359426.7",
"protein_id": "ENSP00000352398.6",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 917,
"cds_start": 78,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "NM_000188.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.573C>G",
"hgvs_p": null,
"transcript": "ENST00000480047.5",
"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": 575,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-7C>G",
"hgvs_p": null,
"transcript": "NM_001322366.1",
"protein_id": "NP_001309295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3493,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-7C>G",
"hgvs_p": null,
"transcript": "NM_001441143.1",
"protein_id": "NP_001428072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-7C>G",
"hgvs_p": null,
"transcript": "ENST00000703945.1",
"protein_id": "ENSP00000515578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3451,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "NM_001441147.1",
"protein_id": "NP_001428076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3597,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "NM_001441149.1",
"protein_id": "NP_001428078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3453,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-327C>G",
"hgvs_p": null,
"transcript": "NM_001441151.1",
"protein_id": "NP_001428080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": -4,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3367,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-659C>G",
"hgvs_p": null,
"transcript": "NM_001441152.1",
"protein_id": "NP_001428081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3624,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-935C>G",
"hgvs_p": null,
"transcript": "NM_001441153.1",
"protein_id": "NP_001428082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 581,
"cds_start": -4,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_001322365.2",
"protein_id": "NP_001309294.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 952,
"cds_start": 183,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "NM_001322364.2",
"protein_id": "NP_001309293.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "NM_033497.3",
"protein_id": "NP_277032.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "NM_033498.3",
"protein_id": "NP_277033.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.90C>G",
"hgvs_p": "p.Leu30Leu",
"transcript": "ENST00000436817.6",
"protein_id": "ENSP00000415949.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 921,
"cds_start": 90,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.78C>G",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001441139.1",
"protein_id": "NP_001428068.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 916,
"cds_start": 78,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.75C>G",
"hgvs_p": "p.Leu25Leu",
"transcript": "NM_033496.3",
"protein_id": "NP_277031.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 916,
"cds_start": 75,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.75C>G",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000298649.8",
"protein_id": "ENSP00000298649.3",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 916,
"cds_start": 75,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.Leu23Leu",
"transcript": "NM_001441140.1",
"protein_id": "NP_001428069.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 914,
"cds_start": 69,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa 79|Hemolytic anemia due to hexokinase deficiency|Charcot-Marie-Tooth disease type 4G|Retinal dystrophy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}