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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: 10-111000523-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=111000523&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 111000523,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369452.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_007373.4",
"protein_id": "NP_031399.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "ENST00000369452.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000369452.9",
"protein_id": "ENSP00000358464.5",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "NM_007373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_001324336.2",
"protein_id": "NP_001311265.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_001324337.2",
"protein_id": "NP_001311266.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 4069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_001441184.1",
"protein_id": "NP_001428113.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_001441185.1",
"protein_id": "NP_001428114.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000685059.1",
"protein_id": "ENSP00000510210.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000688928.1",
"protein_id": "ENSP00000509273.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000689118.1",
"protein_id": "ENSP00000510554.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000689300.1",
"protein_id": "ENSP00000510639.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 6021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000691369.1",
"protein_id": "ENSP00000509754.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000691441.1",
"protein_id": "ENSP00000509686.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 582,
"cds_start": 950,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asn271Ser",
"transcript": "NM_001269039.3",
"protein_id": "NP_001255968.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 536,
"cds_start": 812,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asn271Ser",
"transcript": "NM_001441186.1",
"protein_id": "NP_001428115.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 536,
"cds_start": 812,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asn271Ser",
"transcript": "ENST00000265277.10",
"protein_id": "ENSP00000265277.5",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 536,
"cds_start": 812,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000692776.1",
"protein_id": "ENSP00000508524.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 520,
"cds_start": 950,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "NM_001441187.1",
"protein_id": "NP_001428116.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 479,
"cds_start": 950,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000691903.1",
"protein_id": "ENSP00000510314.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 479,
"cds_start": 950,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Asn94Ser",
"transcript": "NM_001441188.1",
"protein_id": "NP_001428117.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 359,
"cds_start": 281,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4001,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "n.164A>G",
"hgvs_p": null,
"transcript": "ENST00000489390.1",
"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": 815,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "n.1249A>G",
"hgvs_p": null,
"transcript": "ENST00000687592.1",
"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": 2480,
"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_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.-134A>G",
"hgvs_p": null,
"transcript": "NM_001441189.1",
"protein_id": "NP_001428118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2809,
"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_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.-134A>G",
"hgvs_p": null,
"transcript": "NM_001441190.1",
"protein_id": "NP_001428119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
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},
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},
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}
],
"gene_symbol": "SHOC2",
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"dbsnp": "rs1060501927",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8371071815490723,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369452.9",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Asn317Ser"
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],
"clinvar_disease": "RASopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RASopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}