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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: 2-197497294-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197497294&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197497294,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002156.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "NM_002156.5",
"protein_id": "NP_002147.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": "ENST00000388968.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002156.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000388968.8",
"protein_id": "ENSP00000373620.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": "NM_002156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388968.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954440.1",
"protein_id": "ENSP00000624499.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 589,
"cds_start": 273,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954440.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "NM_199440.2",
"protein_id": "NP_955472.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199440.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000345042.6",
"protein_id": "ENSP00000340019.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345042.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000418022.2",
"protein_id": "ENSP00000412227.2",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418022.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000426480.2",
"protein_id": "ENSP00000414446.2",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426480.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000428204.6",
"protein_id": "ENSP00000396460.2",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428204.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000439605.2",
"protein_id": "ENSP00000402478.2",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439605.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000452200.6",
"protein_id": "ENSP00000412717.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452200.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000677913.1",
"protein_id": "ENSP00000503139.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677913.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000678761.1",
"protein_id": "ENSP00000503894.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678761.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000858498.1",
"protein_id": "ENSP00000528557.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858498.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000858500.1",
"protein_id": "ENSP00000528559.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858500.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000858501.1",
"protein_id": "ENSP00000528560.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858501.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000915119.1",
"protein_id": "ENSP00000585178.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915119.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000915120.1",
"protein_id": "ENSP00000585179.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915120.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954435.1",
"protein_id": "ENSP00000624494.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954435.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954437.1",
"protein_id": "ENSP00000624496.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954437.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954438.1",
"protein_id": "ENSP00000624497.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
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"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954438.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954439.1",
"protein_id": "ENSP00000624498.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954439.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys",
"transcript": "ENST00000954441.1",
"protein_id": "ENSP00000624500.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 573,
"cds_start": 273,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 810,
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"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000440114.2"
}
],
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"dbsnp": "rs8539",
"frequency_reference_population": 0.66622204,
"hom_count_reference_population": 360608,
"allele_count_reference_population": 1074363,
"gnomad_exomes_af": 0.665742,
"gnomad_genomes_af": 0.67083,
"gnomad_exomes_ac": 972323,
"gnomad_genomes_ac": 102040,
"gnomad_exomes_homalt": 326067,
"gnomad_genomes_homalt": 34541,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.897,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002156.5",
"gene_symbol": "HSPD1",
"hgnc_id": 5261,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.273A>G",
"hgvs_p": "p.Lys91Lys"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 13,Hypomyelinating leukodystrophy 4,Spastic paraplegia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Spastic paraplegia|Hereditary spastic paraplegia 13|Hypomyelinating leukodystrophy 4|Hereditary spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}