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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: 17-75266901-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75266901&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75266901,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001242498.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Met170Val",
"transcript": "NM_001370592.1",
"protein_id": "NP_001357521.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 222,
"cds_start": 508,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325102.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370592.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Met170Val",
"transcript": "ENST00000325102.13",
"protein_id": "ENSP00000321625.8",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 222,
"cds_start": 508,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370592.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325102.13"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Met170Val",
"transcript": "ENST00000618645.5",
"protein_id": "ENSP00000484245.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 222,
"cds_start": 508,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618645.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Met240Val",
"transcript": "ENST00000886607.1",
"protein_id": "ENSP00000556666.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 292,
"cds_start": 718,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886607.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Met240Val",
"transcript": "ENST00000941500.1",
"protein_id": "ENSP00000611559.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 292,
"cds_start": 718,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941500.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Met238Val",
"transcript": "ENST00000581777.2",
"protein_id": "ENSP00000463493.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 290,
"cds_start": 712,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581777.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "NM_001242498.2",
"protein_id": "NP_001229427.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242498.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "NM_001365751.1",
"protein_id": "NP_001352680.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365751.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000577542.5",
"protein_id": "ENSP00000463334.1",
"transcript_support_level": 3,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577542.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000579194.6",
"protein_id": "ENSP00000462655.2",
"transcript_support_level": 3,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579194.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000579297.5",
"protein_id": "ENSP00000462459.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579297.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000886603.1",
"protein_id": "ENSP00000556662.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886603.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000886605.1",
"protein_id": "ENSP00000556664.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886605.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000886611.1",
"protein_id": "ENSP00000556670.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886611.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000886613.1",
"protein_id": "ENSP00000556672.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886613.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000886614.1",
"protein_id": "ENSP00000556673.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 263,
"cds_start": 631,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886614.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "NM_001242500.1",
"protein_id": "NP_001229429.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242500.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "NM_020679.4",
"protein_id": "NP_065730.2",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020679.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "ENST00000245551.9",
"protein_id": "ENSP00000245551.5",
"transcript_support_level": 3,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245551.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "ENST00000886604.1",
"protein_id": "ENSP00000556663.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886604.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "ENST00000886610.1",
"protein_id": "ENSP00000556669.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886610.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIF4GD",
"gene_hgnc_id": 24030,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "ENST00000941499.1",
"protein_id": "ENSP00000611558.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 256,
"cds_start": 610,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"gene_hgnc_id": 24030,
"dbsnp": "rs1446341347",
"frequency_reference_population": 0.0000027362028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027362,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8454412221908569,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.573,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5303,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.638,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242498.2",
"gene_symbol": "MIF4GD",
"hgnc_id": 24030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000886316.1",
"gene_symbol": "MRPS7",
"hgnc_id": 14499,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.*43+935T>C",
"hgvs_p": null
}
],
"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
}