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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: 2-222571977-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222571977&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222571977,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005687.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Gly555Asp",
"transcript": "NM_005687.5",
"protein_id": "NP_005678.3",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 589,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281828.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005687.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Gly555Asp",
"transcript": "ENST00000281828.8",
"protein_id": "ENSP00000281828.6",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 589,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005687.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281828.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Gly593Asp",
"transcript": "ENST00000875114.1",
"protein_id": "ENSP00000545173.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 627,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875114.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Gly592Asp",
"transcript": "ENST00000875112.1",
"protein_id": "ENSP00000545171.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 626,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875112.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Gly564Asp",
"transcript": "ENST00000875113.1",
"protein_id": "ENSP00000545172.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 598,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875113.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Gly553Asp",
"transcript": "ENST00000938936.1",
"protein_id": "ENSP00000608995.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 587,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938936.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Asp",
"transcript": "ENST00000938938.1",
"protein_id": "ENSP00000608997.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 562,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938938.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Gly524Asp",
"transcript": "ENST00000875115.1",
"protein_id": "ENSP00000545174.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 558,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875115.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Asp",
"transcript": "ENST00000938937.1",
"protein_id": "ENSP00000608996.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 537,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938937.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Gly493Asp",
"transcript": "ENST00000938935.1",
"protein_id": "ENSP00000608994.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 527,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938935.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Gly438Asp",
"transcript": "ENST00000958636.1",
"protein_id": "ENSP00000628695.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 472,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958636.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Gly271Asp",
"transcript": "ENST00000958637.1",
"protein_id": "ENSP00000628696.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 305,
"cds_start": 812,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958637.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Asp",
"transcript": "ENST00000938939.1",
"protein_id": "ENSP00000608998.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 121,
"cds_start": 260,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938939.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Gly35Asp",
"transcript": "ENST00000938940.1",
"protein_id": "ENSP00000608999.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 69,
"cds_start": 104,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938940.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Gly456Asp",
"transcript": "XM_006712169.3",
"protein_id": "XP_006712232.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 490,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712169.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Gly456Asp",
"transcript": "XM_011510466.3",
"protein_id": "XP_011508768.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 490,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510466.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"hgvs_c": "n.1879G>A",
"hgvs_p": null,
"transcript": "NR_130154.2",
"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": "NR_130154.2"
}
],
"gene_symbol": "FARSB",
"gene_hgnc_id": 17800,
"dbsnp": "rs774298156",
"frequency_reference_population": 0.000004104686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410469,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22018560767173767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1387,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.722,
"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": 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_005687.5",
"gene_symbol": "FARSB",
"hgnc_id": 17800,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Gly555Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}