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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: 7-105567208-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105567208&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 105567208,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000257700.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.2276C>G",
"hgvs_p": "p.Pro759Arg",
"transcript": "NM_021930.6",
"protein_id": "NP_068749.3",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 792,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "ENST00000257700.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.2276C>G",
"hgvs_p": "p.Pro759Arg",
"transcript": "ENST00000257700.7",
"protein_id": "ENSP00000257700.2",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 792,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "NM_021930.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.*246G>C",
"hgvs_p": null,
"transcript": "ENST00000486180.5",
"protein_id": "ENSP00000417484.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1550,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.383+259G>C",
"hgvs_p": null,
"transcript": "NM_001355526.2",
"protein_id": "NP_001342455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 737,
"mane_select": "ENST00000480514.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.383+259G>C",
"hgvs_p": null,
"transcript": "ENST00000480514.6",
"protein_id": "ENSP00000418678.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 737,
"mane_select": "NM_001355526.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.2042C>G",
"hgvs_p": "p.Pro681Arg",
"transcript": "NM_001346599.2",
"protein_id": "NP_001333528.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 714,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1352C>G",
"hgvs_p": "p.Pro451Arg",
"transcript": "NM_001346601.2",
"protein_id": "NP_001333530.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 484,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1253C>G",
"hgvs_p": "p.Pro418Arg",
"transcript": "NM_001346600.2",
"protein_id": "NP_001333529.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 451,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1253C>G",
"hgvs_p": "p.Pro418Arg",
"transcript": "NM_001346603.2",
"protein_id": "NP_001333532.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 451,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1853C>G",
"hgvs_p": "p.Pro618Arg",
"transcript": "XM_047420686.1",
"protein_id": "XP_047276642.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 651,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1352C>G",
"hgvs_p": "p.Pro451Arg",
"transcript": "XM_047420687.1",
"protein_id": "XP_047276643.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 484,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1253C>G",
"hgvs_p": "p.Pro418Arg",
"transcript": "XM_005250524.5",
"protein_id": "XP_005250581.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 451,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1253C>G",
"hgvs_p": "p.Pro418Arg",
"transcript": "XM_011516458.4",
"protein_id": "XP_011514760.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 451,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*1881C>G",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"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": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.2191C>G",
"hgvs_p": null,
"transcript": "NR_144478.2",
"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": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.*246G>C",
"hgvs_p": null,
"transcript": "NM_001355527.2",
"protein_id": "NP_001342456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.*246G>C",
"hgvs_p": null,
"transcript": "NM_001355529.2",
"protein_id": "NP_001342458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.*246G>C",
"hgvs_p": null,
"transcript": "ENST00000460135.1",
"protein_id": "ENSP00000418425.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.*246G>C",
"hgvs_p": null,
"transcript": "ENST00000490493.1",
"protein_id": "ENSP00000494437.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*1881C>G",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"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": 2627,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.383+259G>C",
"hgvs_p": null,
"transcript": "NM_001355530.2",
"protein_id": "NP_001342459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 905,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.383+259G>C",
"hgvs_p": null,
"transcript": "ENST00000485614.5",
"protein_id": "ENSP00000417841.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 799,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.360-1761G>C",
"hgvs_p": null,
"transcript": "NM_001355531.2",
"protein_id": "NP_001342460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EFCAB10",
"gene_hgnc_id": 34531,
"hgvs_c": "c.174-1761G>C",
"hgvs_p": null,
"transcript": "ENST00000469099.5",
"protein_id": "ENSP00000495682.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"dbsnp": "rs34310648",
"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": 0.14227935671806335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.1235,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.694,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257700.7",
"gene_symbol": "RINT1",
"hgnc_id": 21876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2276C>G",
"hgvs_p": "p.Pro759Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480514.6",
"gene_symbol": "EFCAB10",
"hgnc_id": 34531,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.383+259G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}