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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: 6-150887869-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=150887869&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 150887869,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001242767.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "NM_015440.5",
"protein_id": "NP_056255.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 978,
"cds_start": 668,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367321.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015440.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "ENST00000367321.8",
"protein_id": "ENSP00000356290.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 978,
"cds_start": 668,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015440.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367321.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "ENST00000367307.8",
"protein_id": "ENSP00000356276.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 275,
"cds_start": 668,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367307.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "NM_001242767.2",
"protein_id": "NP_001229696.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 979,
"cds_start": 671,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242767.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "ENST00000611279.4",
"protein_id": "ENSP00000478253.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 979,
"cds_start": 671,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611279.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"transcript": "ENST00000939695.1",
"protein_id": "ENSP00000609754.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 976,
"cds_start": 662,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939695.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "ENST00000968101.1",
"protein_id": "ENSP00000638160.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 921,
"cds_start": 671,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968101.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "NM_001242768.2",
"protein_id": "NP_001229697.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 913,
"cds_start": 473,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242768.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "ENST00000618312.4",
"protein_id": "ENSP00000479539.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 913,
"cds_start": 473,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618312.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.470T>C",
"hgvs_p": "p.Ile157Thr",
"transcript": "NM_001350486.1",
"protein_id": "NP_001337415.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 912,
"cds_start": 470,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350486.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Ile114Thr",
"transcript": "NM_001350492.2",
"protein_id": "NP_001337421.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 869,
"cds_start": 341,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350492.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Ile114Thr",
"transcript": "NM_001350493.1",
"protein_id": "NP_001337422.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 869,
"cds_start": 341,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350493.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"transcript": "NM_001350487.2",
"protein_id": "NP_001337416.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 868,
"cds_start": 338,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350487.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Ile183Thr",
"transcript": "ENST00000367308.8",
"protein_id": "ENSP00000356277.4",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 330,
"cds_start": 548,
"cds_end": null,
"cds_length": 994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367308.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "NM_001350488.3",
"protein_id": "NP_001337417.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 276,
"cds_start": 671,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350488.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "NM_001242769.3",
"protein_id": "NP_001229698.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 275,
"cds_start": 668,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242769.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Ile114Thr",
"transcript": "NM_001350491.3",
"protein_id": "NP_001337420.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 166,
"cds_start": 341,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350491.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"transcript": "ENST00000423867.2",
"protein_id": "ENSP00000400776.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 113,
"cds_start": 338,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423867.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "XM_047418609.1",
"protein_id": "XP_047274565.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 987,
"cds_start": 671,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418609.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "XM_005266907.6",
"protein_id": "XP_005266964.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 986,
"cds_start": 668,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266907.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "XM_017010702.3",
"protein_id": "XP_016866191.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 979,
"cds_start": 671,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010702.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "XM_017010703.3",
"protein_id": "XP_016866192.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 979,
"cds_start": 671,
"cds_end": null,
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"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": "nonsense_mediated_decay",
"feature": "ENST00000441122.5"
}
],
"gene_symbol": "MTHFD1L",
"gene_hgnc_id": 21055,
"dbsnp": "rs1782575698",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30728679895401,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.5083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.062,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242767.2",
"gene_symbol": "MTHFD1L",
"hgnc_id": 21055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr"
}
],
"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
}