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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: 9-125438948-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=125438948&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 125438948,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001006617.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1508G>T",
"hgvs_p": "p.Arg503Ile",
"transcript": "NM_001006617.3",
"protein_id": "NP_001006618.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 522,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265960.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006617.3"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1508G>T",
"hgvs_p": "p.Arg503Ile",
"transcript": "ENST00000265960.8",
"protein_id": "ENSP00000265960.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 522,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001006617.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265960.8"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Ile",
"transcript": "ENST00000350766.7",
"protein_id": "ENSP00000265961.5",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350766.7"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1367G>T",
"hgvs_p": "p.Arg456Ile",
"transcript": "ENST00000373511.6",
"protein_id": "ENSP00000362610.2",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 475,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373511.6"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.932G>T",
"hgvs_p": "p.Arg311Ile",
"transcript": "ENST00000373503.7",
"protein_id": "ENSP00000362602.3",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 330,
"cds_start": 932,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373503.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "n.*249G>T",
"hgvs_p": null,
"transcript": "ENST00000497932.5",
"protein_id": "ENSP00000418607.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "n.*249G>T",
"hgvs_p": null,
"transcript": "ENST00000497932.5",
"protein_id": "ENSP00000418607.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497932.5"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1544G>T",
"hgvs_p": "p.Arg515Ile",
"transcript": "ENST00000960917.1",
"protein_id": "ENSP00000630976.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 534,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960917.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1508G>T",
"hgvs_p": "p.Arg503Ile",
"transcript": "ENST00000373498.5",
"protein_id": "ENSP00000362597.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 522,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373498.5"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1508G>T",
"hgvs_p": "p.Arg503Ile",
"transcript": "ENST00000960914.1",
"protein_id": "ENSP00000630973.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 522,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960914.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Ile",
"transcript": "NM_024117.4",
"protein_id": "NP_077022.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024117.4"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Ile",
"transcript": "ENST00000898457.1",
"protein_id": "ENSP00000568516.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898457.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Ile",
"transcript": "ENST00000898458.1",
"protein_id": "ENSP00000568517.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898458.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Ile",
"transcript": "ENST00000915245.1",
"protein_id": "ENSP00000585304.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 486,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915245.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1367G>T",
"hgvs_p": "p.Arg456Ile",
"transcript": "NM_001006619.2",
"protein_id": "NP_001006620.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 475,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006619.2"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1367G>T",
"hgvs_p": "p.Arg456Ile",
"transcript": "ENST00000898453.1",
"protein_id": "ENSP00000568512.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 475,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898453.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1367G>T",
"hgvs_p": "p.Arg456Ile",
"transcript": "ENST00000960913.1",
"protein_id": "ENSP00000630972.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 475,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960913.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1367G>T",
"hgvs_p": "p.Arg456Ile",
"transcript": "ENST00000960916.1",
"protein_id": "ENSP00000630975.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 475,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960916.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1331G>T",
"hgvs_p": "p.Arg444Ile",
"transcript": "ENST00000898452.1",
"protein_id": "ENSP00000568511.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 463,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898452.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1331G>T",
"hgvs_p": "p.Arg444Ile",
"transcript": "ENST00000960915.1",
"protein_id": "ENSP00000630974.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 463,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960915.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1310G>T",
"hgvs_p": "p.Arg437Ile",
"transcript": "ENST00000898455.1",
"protein_id": "ENSP00000568514.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 456,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898455.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPKAP1",
"gene_hgnc_id": 18752,
"hgvs_c": "c.1259G>T",
"hgvs_p": "p.Arg420Ile",
"transcript": "ENST00000898451.1",
"protein_id": "ENSP00000568510.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 439,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001006617.3",
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"effects": [
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],
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],
"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
}