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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: 2-102718661-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102718661&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102718661,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032718.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1184T>G",
"hgvs_p": "p.Ile395Ser",
"transcript": "NM_032718.5",
"protein_id": "NP_116107.3",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 474,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": "ENST00000258436.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032718.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1184T>G",
"hgvs_p": "p.Ile395Ser",
"transcript": "ENST00000258436.10",
"protein_id": "ENSP00000258436.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 474,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": "NM_032718.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258436.10"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1181T>G",
"hgvs_p": "p.Ile394Ser",
"transcript": "ENST00000939979.1",
"protein_id": "ENSP00000610038.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 473,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939979.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1172T>G",
"hgvs_p": "p.Ile391Ser",
"transcript": "ENST00000962756.1",
"protein_id": "ENSP00000632815.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 470,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962756.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1127T>G",
"hgvs_p": "p.Ile376Ser",
"transcript": "ENST00000869175.1",
"protein_id": "ENSP00000539234.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 455,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869175.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Ile334Ser",
"transcript": "NM_001322080.2",
"protein_id": "NP_001309009.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 413,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322080.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Ile334Ser",
"transcript": "NM_001322081.2",
"protein_id": "NP_001309010.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 413,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322081.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Ile334Ser",
"transcript": "XM_011512005.3",
"protein_id": "XP_011510307.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 413,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512005.3"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.809T>G",
"hgvs_p": "p.Ile270Ser",
"transcript": "XM_047446045.1",
"protein_id": "XP_047302001.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 349,
"cds_start": 809,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446045.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "c.761T>G",
"hgvs_p": "p.Ile254Ser",
"transcript": "XM_011512007.3",
"protein_id": "XP_011510309.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 333,
"cds_start": 761,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512007.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "n.*985T>G",
"hgvs_p": null,
"transcript": "ENST00000437075.6",
"protein_id": "ENSP00000414870.2",
"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": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437075.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "n.*1020T>G",
"hgvs_p": null,
"transcript": "ENST00000438943.5",
"protein_id": "ENSP00000408630.1",
"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": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438943.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "n.1346T>G",
"hgvs_p": null,
"transcript": "NR_136173.2",
"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": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136173.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "n.1231T>G",
"hgvs_p": null,
"transcript": "NR_136174.2",
"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": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136174.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "n.1378T>G",
"hgvs_p": null,
"transcript": "XR_007083050.1",
"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": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007083050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"hgvs_c": "n.1262T>G",
"hgvs_p": null,
"transcript": "XR_923047.3",
"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": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_923047.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "n.*985T>G",
"hgvs_p": null,
"transcript": "ENST00000437075.6",
"protein_id": "ENSP00000414870.2",
"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": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437075.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "n.*1020T>G",
"hgvs_p": null,
"transcript": "ENST00000438943.5",
"protein_id": "ENSP00000408630.1",
"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": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438943.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD9",
"gene_hgnc_id": 28158,
"hgvs_c": "n.*989T>G",
"hgvs_p": null,
"transcript": "ENST00000411991.5",
"protein_id": "ENSP00000392605.1",
"transcript_support_level": 1,
"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": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411991.5"
}
],
"gene_symbol": "SLC67A2",
"gene_hgnc_id": 28158,
"dbsnp": "rs766417266",
"frequency_reference_population": 0.000041517327,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000444719,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5726674199104309,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.3493,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.679,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032718.5",
"gene_symbol": "SLC67A2",
"hgnc_id": 28158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1184T>G",
"hgvs_p": "p.Ile395Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000258436.10",
"gene_symbol": "MFSD9",
"hgnc_id": 28158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1184T>G",
"hgvs_p": "p.Ile395Ser"
}
],
"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
}