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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: 11-123059751-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123059751&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123059751,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006597.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "NM_006597.6",
"protein_id": "NP_006588.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534624.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006597.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000534624.6",
"protein_id": "ENSP00000432083.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534624.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000227378.7",
"protein_id": "ENSP00000227378.3",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227378.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000453788.6",
"protein_id": "ENSP00000404372.2",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 493,
"cds_start": 842,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453788.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "n.991G>A",
"hgvs_p": null,
"transcript": "ENST00000527983.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000527983.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000935613.1",
"protein_id": "ENSP00000605672.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 652,
"cds_start": 842,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935613.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000876976.1",
"protein_id": "ENSP00000547035.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 649,
"cds_start": 842,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876976.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000532636.5",
"protein_id": "ENSP00000437125.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532636.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000876974.1",
"protein_id": "ENSP00000547033.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876974.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000935611.1",
"protein_id": "ENSP00000605670.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935611.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000935614.1",
"protein_id": "ENSP00000605673.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935614.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000971746.1",
"protein_id": "ENSP00000641805.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971746.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Ser262Asn",
"transcript": "ENST00000526110.5",
"protein_id": "ENSP00000433584.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 627,
"cds_start": 785,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526110.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000971745.1",
"protein_id": "ENSP00000641804.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 603,
"cds_start": 842,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971745.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000935616.1",
"protein_id": "ENSP00000605675.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 590,
"cds_start": 842,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935616.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000533540.5",
"protein_id": "ENSP00000437189.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 500,
"cds_start": 404,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533540.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000935612.1",
"protein_id": "ENSP00000605671.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 494,
"cds_start": 842,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935612.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "NM_153201.4",
"protein_id": "NP_694881.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 493,
"cds_start": 842,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153201.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "ENST00000876975.1",
"protein_id": "ENSP00000547034.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 493,
"cds_start": 842,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876975.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.134G>A",
"hgvs_p": "p.Ser45Asn",
"transcript": "ENST00000534319.5",
"protein_id": "ENSP00000433316.1",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 410,
"cds_start": 134,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534319.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "ENST00000528292.5",
"protein_id": "ENSP00000432884.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 311,
"cds_start": 662,
"cds_end": null,
"cds_length": 937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528292.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Ser281Asn",
"transcript": "XM_011542798.2",
"protein_id": "XP_011541100.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 646,
"cds_start": 842,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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{
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],
"gene_symbol": "HSPA8",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33164530992507935,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.805,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006597.6",
"gene_symbol": "HSPA8",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}