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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: 19-58552350-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58552350&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58552350,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014453.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "NM_014453.4",
"protein_id": "NP_055268.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 894,
"mane_select": "ENST00000312547.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014453.4"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000312547.7",
"protein_id": "ENSP00000310440.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 894,
"mane_select": "NM_014453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312547.7"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000600118.6",
"protein_id": "ENSP00000469240.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600118.6"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000601220.5",
"protein_id": "ENSP00000472680.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601220.5"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000600006.6",
"protein_id": "ENSP00000472097.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600006.6"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884949.1",
"protein_id": "ENSP00000555008.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884949.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884958.1",
"protein_id": "ENSP00000555017.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884958.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000917470.1",
"protein_id": "ENSP00000587529.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917470.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000917473.1",
"protein_id": "ENSP00000587532.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917473.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000917474.1",
"protein_id": "ENSP00000587533.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 265,
"cds_start": 257,
"cds_end": null,
"cds_length": 798,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917474.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.302T>A",
"hgvs_p": "p.Val101Glu",
"transcript": "ENST00000884953.1",
"protein_id": "ENSP00000555012.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 237,
"cds_start": 302,
"cds_end": null,
"cds_length": 714,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884953.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.302T>A",
"hgvs_p": "p.Val101Glu",
"transcript": "ENST00000944519.1",
"protein_id": "ENSP00000614578.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 237,
"cds_start": 302,
"cds_end": null,
"cds_length": 714,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944519.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "NM_198426.3",
"protein_id": "NP_940818.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198426.3"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000596708.2",
"protein_id": "ENSP00000471961.2",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596708.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000597848.2",
"protein_id": "ENSP00000469453.2",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597848.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884944.1",
"protein_id": "ENSP00000555003.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884944.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884947.1",
"protein_id": "ENSP00000555006.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884947.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884948.1",
"protein_id": "ENSP00000555007.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884948.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884950.1",
"protein_id": "ENSP00000555009.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884950.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884952.1",
"protein_id": "ENSP00000555011.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884952.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884954.1",
"protein_id": "ENSP00000555013.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884954.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu",
"transcript": "ENST00000884955.1",
"protein_id": "ENSP00000555014.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
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{
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{
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{
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"gene_symbol": "CHMP2A",
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"feature": "ENST00000691588.1"
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],
"gene_symbol": "CHMP2A",
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"dbsnp": "rs2053840986",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9256275296211243,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.869,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.097,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014453.4",
"gene_symbol": "CHMP2A",
"hgnc_id": 30216,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.257T>A",
"hgvs_p": "p.Val86Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}