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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: 22-38607472-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38607472&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38607472,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001013647.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys",
"transcript": "NM_001013647.2",
"protein_id": "NP_001013669.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 570,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535113.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013647.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys",
"transcript": "ENST00000535113.7",
"protein_id": "ENSP00000445093.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 570,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013647.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535113.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys",
"transcript": "ENST00000355830.11",
"protein_id": "ENSP00000348086.7",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 651,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355830.11"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys",
"transcript": "ENST00000540952.6",
"protein_id": "ENSP00000493504.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 622,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540952.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "NM_001384270.1",
"protein_id": "NP_001371199.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 533,
"cds_start": 776,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384270.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ser255Cys",
"transcript": "NM_001291030.2",
"protein_id": "NP_001277959.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 477,
"cds_start": 764,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291030.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.479C>G",
"hgvs_p": "p.Ser160Cys",
"transcript": "NM_001384271.1",
"protein_id": "NP_001371200.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 382,
"cds_start": 479,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384271.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ser352Cys",
"transcript": "XM_006724291.3",
"protein_id": "XP_006724354.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 688,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724291.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ser352Cys",
"transcript": "XM_011530308.4",
"protein_id": "XP_011528610.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 688,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530308.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys",
"transcript": "XM_006724292.3",
"protein_id": "XP_006724355.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 684,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724292.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ser352Cys",
"transcript": "XM_011530309.3",
"protein_id": "XP_011528611.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 655,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530309.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.950C>G",
"hgvs_p": "p.Ser317Cys",
"transcript": "XM_011530310.2",
"protein_id": "XP_011528612.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 653,
"cds_start": 950,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530310.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.938C>G",
"hgvs_p": "p.Ser313Cys",
"transcript": "XM_047441456.1",
"protein_id": "XP_047297412.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 649,
"cds_start": 938,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441456.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.932C>G",
"hgvs_p": "p.Ser311Cys",
"transcript": "XM_011530311.2",
"protein_id": "XP_011528613.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 647,
"cds_start": 932,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530311.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "XM_011530312.3",
"protein_id": "XP_011528614.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 776,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530312.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "XM_011530313.3",
"protein_id": "XP_011528615.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 776,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530313.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "XM_047441457.1",
"protein_id": "XP_047297413.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 776,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441457.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ser255Cys",
"transcript": "XM_047441458.1",
"protein_id": "XP_047297414.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 591,
"cds_start": 764,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441458.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "XM_047441459.1",
"protein_id": "XP_047297415.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 533,
"cds_start": 776,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.773C>G",
"hgvs_p": null,
"transcript": "ENST00000541689.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000541689.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.1361C>G",
"hgvs_p": null,
"transcript": "ENST00000544346.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000544346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.1422C>G",
"hgvs_p": null,
"transcript": "XR_937892.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_937892.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"hgvs_c": "n.1422C>G",
"hgvs_p": null,
"transcript": "XR_937893.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_937893.2"
}
],
"gene_symbol": "FAM227A",
"gene_hgnc_id": 44197,
"dbsnp": null,
"frequency_reference_population": 0.0000014325026,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000014325,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10915148258209229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.184,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "NM_001013647.2",
"gene_symbol": "FAM227A",
"hgnc_id": 44197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ser348Cys"
}
],
"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
}