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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: 1-244860382-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244860382&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244860382,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000640218.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly",
"transcript": "NM_031844.3",
"protein_id": "NP_114032.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 970,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "ENST00000640218.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly",
"transcript": "ENST00000640218.2",
"protein_id": "ENSP00000491215.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 825,
"cds_start": 970,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 6867,
"mane_select": "NM_031844.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Arg305Gly",
"transcript": "ENST00000444376.7",
"protein_id": "ENSP00000393151.2",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 806,
"cds_start": 913,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Arg48Gly",
"transcript": "ENST00000639628.2",
"protein_id": "ENSP00000491340.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 549,
"cds_start": 142,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Arg305Gly",
"transcript": "NM_004501.3",
"protein_id": "NP_004492.2",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 806,
"cds_start": 913,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Arg243Gly",
"transcript": "ENST00000283179.14",
"protein_id": "ENSP00000283179.10",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 744,
"cds_start": 727,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Arg233Gly",
"transcript": "ENST00000638475.1",
"protein_id": "ENSP00000491305.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 728,
"cds_start": 697,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.589A>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "ENST00000704074.1",
"protein_id": "ENSP00000515674.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 664,
"cds_start": 589,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.301A>G",
"hgvs_p": "p.Arg101Gly",
"transcript": "ENST00000440865.2",
"protein_id": "ENSP00000410728.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 602,
"cds_start": 301,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Arg48Gly",
"transcript": "ENST00000638716.1",
"protein_id": "ENSP00000491601.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 547,
"cds_start": 142,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Arg48Gly",
"transcript": "ENST00000640001.1",
"protein_id": "ENSP00000491294.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 546,
"cds_start": 142,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.583A>G",
"hgvs_p": null,
"transcript": "ENST00000366525.8",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.367A>G",
"hgvs_p": null,
"transcript": "ENST00000465881.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.3084A>G",
"hgvs_p": null,
"transcript": "ENST00000476241.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.79A>G",
"hgvs_p": null,
"transcript": "ENST00000638230.1",
"protein_id": "ENSP00000492010.1",
"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,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.142A>G",
"hgvs_p": null,
"transcript": "ENST00000638301.1",
"protein_id": "ENSP00000491807.1",
"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,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.1284A>G",
"hgvs_p": null,
"transcript": "ENST00000638589.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.3187A>G",
"hgvs_p": null,
"transcript": "ENST00000638952.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.2000A>G",
"hgvs_p": null,
"transcript": "ENST00000639667.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.142A>G",
"hgvs_p": null,
"transcript": "ENST00000639880.1",
"protein_id": "ENSP00000490988.1",
"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,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.316A>G",
"hgvs_p": null,
"transcript": "ENST00000640056.1",
"protein_id": "ENSP00000492620.1",
"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,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.913A>G",
"hgvs_p": null,
"transcript": "ENST00000640306.1",
"protein_id": "ENSP00000491685.1",
"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,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.501A>G",
"hgvs_p": null,
"transcript": "ENST00000640440.1",
"protein_id": "ENSP00000491263.1",
"transcript_support_level": 3,
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.1137A>G",
"hgvs_p": null,
"transcript": "ENST00000649899.1",
"protein_id": null,
"transcript_support_level": null,
"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": 13084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"dbsnp": "rs1553283037",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9022366404533386,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.997,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000640218.2",
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Arg324Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}