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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: 10-113729408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113729408&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 113729408,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000369318.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249Lys",
"transcript": "ENST00000369331.8",
"protein_id": "ENSP00000358337.3",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 253,
"cds_start": 746,
"cds_end": null,
"cds_length": 762,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "NM_001227.5",
"protein_id": "NP_001218.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "ENST00000369318.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "ENST00000369318.8",
"protein_id": "ENSP00000358324.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "NM_001227.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Gln293Gln",
"transcript": "ENST00000621607.4",
"protein_id": "ENSP00000478999.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 336,
"cds_start": 879,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "ENST00000345633.8",
"protein_id": "ENSP00000298701.7",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "ENST00000369315.5",
"protein_id": "ENSP00000358321.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "ENST00000621345.4",
"protein_id": "ENSP00000480584.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249Lys",
"transcript": "NM_033340.4",
"protein_id": "NP_203126.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 253,
"cds_start": 746,
"cds_end": null,
"cds_length": 762,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249Lys",
"transcript": "ENST00000614447.4",
"protein_id": "ENSP00000478285.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 253,
"cds_start": 746,
"cds_end": null,
"cds_length": 762,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Gln345Gln",
"transcript": "NM_001267057.1",
"protein_id": "NP_001253986.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 388,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Gln345Gln",
"transcript": "ENST00000369321.6",
"protein_id": "ENSP00000358327.3",
"transcript_support_level": 2,
"aa_start": 345,
"aa_end": null,
"aa_length": 388,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Gln293Gln",
"transcript": "NM_033338.6",
"protein_id": "NP_203124.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 336,
"cds_start": 879,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Gln268Gln",
"transcript": "NM_001320911.2",
"protein_id": "NP_001307840.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 311,
"cds_start": 804,
"cds_end": null,
"cds_length": 936,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "NM_001267056.2",
"protein_id": "NP_001253985.1",
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"aa_start": 260,
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"cds_start": 780,
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"cdna_start": 936,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln",
"transcript": "NM_033339.5",
"protein_id": "NP_203125.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 303,
"cds_start": 780,
"cds_end": null,
"cds_length": 912,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000672138.1",
"protein_id": "ENSP00000500735.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Gln235Gln",
"transcript": "NM_001267058.2",
"protein_id": "NP_001253987.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 278,
"cds_start": 705,
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"cds_length": 837,
"cdna_start": 739,
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"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Gln235Gln",
"transcript": "ENST00000452490.3",
"protein_id": "ENSP00000398107.2",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 278,
"cds_start": 705,
"cds_end": null,
"cds_length": 837,
"cdna_start": 772,
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"cdna_length": 2271,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.837G>A",
"hgvs_p": "p.Gln279Gln",
"transcript": "XM_017016763.2",
"protein_id": "XP_016872252.1",
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"aa_start": 279,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Gln274Gln",
"transcript": "XM_006718017.4",
"protein_id": "XP_006718080.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 317,
"cds_start": 822,
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"cdna_start": 885,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Gln227Gln",
"transcript": "XM_011540260.2",
"protein_id": "XP_011538562.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 270,
"cds_start": 681,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "n.704G>A",
"hgvs_p": null,
"transcript": "ENST00000487232.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"dbsnp": "rs2227309",
"frequency_reference_population": 0.25753757,
"hom_count_reference_population": 55255,
"allele_count_reference_population": 415490,
"gnomad_exomes_af": 0.260279,
"gnomad_genomes_af": 0.2312,
"gnomad_exomes_ac": 380324,
"gnomad_genomes_ac": 35166,
"gnomad_exomes_homalt": 50863,
"gnomad_genomes_homalt": 4392,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026726126670837402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.101,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000369318.8",
"gene_symbol": "CASP7",
"hgnc_id": 1508,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.780G>A",
"hgvs_p": "p.Gln260Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}