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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: 11-64116704-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64116704&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64116704,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000682287.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "NM_013280.5",
"protein_id": "NP_037412.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "ENST00000682287.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "ENST00000682287.1",
"protein_id": "ENSP00000507207.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": "NM_013280.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "ENST00000246841.3",
"protein_id": "ENSP00000246841.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3949,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null,
"transcript": "NM_014067.4",
"protein_id": "NP_054786.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": "ENST00000255681.7",
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null,
"transcript": "ENST00000255681.7",
"protein_id": "ENSP00000255681.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": "NM_014067.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "NM_001384466.1",
"protein_id": "NP_001371395.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "NM_001423967.1",
"protein_id": "NP_001410896.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 646,
"cds_start": 353,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000715990.1",
"protein_id": "ENSP00000520551.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 646,
"cds_start": 353,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "XM_047426696.1",
"protein_id": "XP_047282652.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "XM_047426697.1",
"protein_id": "XP_047282653.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 4805,
"cdna_end": null,
"cdna_length": 7272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "XM_047426698.1",
"protein_id": "XP_047282654.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 13511,
"cdna_end": null,
"cdna_length": 15978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu",
"transcript": "XM_047426699.1",
"protein_id": "XP_047282655.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 674,
"cds_start": 437,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 5451,
"cdna_end": null,
"cdna_length": 7918,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null,
"transcript": "NM_001411019.1",
"protein_id": "NP_001397948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1222,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null,
"transcript": "ENST00000675777.1",
"protein_id": "ENSP00000502549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "n.298+34535G>A",
"hgvs_p": null,
"transcript": "ENST00000542359.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "n.81+10150G>A",
"hgvs_p": null,
"transcript": "ENST00000543422.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "n.629+34535G>A",
"hgvs_p": null,
"transcript": "ENST00000545464.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 899,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null,
"transcript": "XM_011544970.3",
"protein_id": "XP_011543272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1192,
"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": "MACROD1",
"gene_hgnc_id": 29598,
"hgvs_c": "c.518-718G>A",
"hgvs_p": null,
"transcript": "XM_006718521.4",
"protein_id": "XP_006718584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLRT1",
"gene_hgnc_id": 3760,
"dbsnp": "rs756250929",
"frequency_reference_population": 0.000054533197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000554225,
"gnomad_genomes_af": 0.0000459933,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07839655876159668,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.852,
"phylop100way_prediction": "Pathogenic",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000682287.1",
"gene_symbol": "FLRT1",
"hgnc_id": 3760,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ser146Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000255681.7",
"gene_symbol": "MACROD1",
"hgnc_id": 29598,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.517+34535G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Peripheral neuropathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Peripheral neuropathy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}