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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: 21-31671657-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31671657&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31671657,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020706.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Asp1062Glu",
"transcript": "NM_020706.2",
"protein_id": "NP_065757.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3186,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286835.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020706.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Asp1062Glu",
"transcript": "ENST00000286835.12",
"protein_id": "ENSP00000286835.7",
"transcript_support_level": 1,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3186,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020706.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286835.12"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3141T>G",
"hgvs_p": "p.Asp1047Glu",
"transcript": "ENST00000434667.3",
"protein_id": "ENSP00000402377.2",
"transcript_support_level": 1,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3141,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434667.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3120T>G",
"hgvs_p": "p.Asp1040Glu",
"transcript": "ENST00000399804.5",
"protein_id": "ENSP00000382703.1",
"transcript_support_level": 1,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3120,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399804.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3183T>G",
"hgvs_p": "p.Asp1061Glu",
"transcript": "ENST00000908758.1",
"protein_id": "ENSP00000578817.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908758.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3180T>G",
"hgvs_p": "p.Asp1060Glu",
"transcript": "ENST00000908762.1",
"protein_id": "ENSP00000578821.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3180,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908762.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3177T>G",
"hgvs_p": "p.Asp1059Glu",
"transcript": "ENST00000931674.1",
"protein_id": "ENSP00000601733.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931674.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3174T>G",
"hgvs_p": "p.Asp1058Glu",
"transcript": "ENST00000908761.1",
"protein_id": "ENSP00000578820.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908761.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3168T>G",
"hgvs_p": "p.Asp1056Glu",
"transcript": "ENST00000949917.1",
"protein_id": "ENSP00000619976.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3168,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949917.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3141T>G",
"hgvs_p": "p.Asp1047Glu",
"transcript": "NM_001145444.1",
"protein_id": "NP_001138916.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3141,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145444.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3120T>G",
"hgvs_p": "p.Asp1040Glu",
"transcript": "NM_001145445.1",
"protein_id": "NP_001138917.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3120,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145445.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3117T>G",
"hgvs_p": "p.Asp1039Glu",
"transcript": "ENST00000908760.1",
"protein_id": "ENSP00000578819.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3117,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908760.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3114T>G",
"hgvs_p": "p.Asp1038Glu",
"transcript": "ENST00000908759.1",
"protein_id": "ENSP00000578818.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908759.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3108T>G",
"hgvs_p": "p.Asp1036Glu",
"transcript": "ENST00000908756.1",
"protein_id": "ENSP00000578815.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908756.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3084T>G",
"hgvs_p": "p.Asp1028Glu",
"transcript": "ENST00000931675.1",
"protein_id": "ENSP00000601734.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931675.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3075T>G",
"hgvs_p": "p.Asp1025Glu",
"transcript": "ENST00000908765.1",
"protein_id": "ENSP00000578824.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3075,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908765.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3009T>G",
"hgvs_p": "p.Asp1003Glu",
"transcript": "ENST00000908757.1",
"protein_id": "ENSP00000578816.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3009,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908757.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3006T>G",
"hgvs_p": "p.Asp1002Glu",
"transcript": "ENST00000908763.1",
"protein_id": "ENSP00000578822.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1087,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908763.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2997T>G",
"hgvs_p": "p.Asp999Glu",
"transcript": "ENST00000908764.1",
"protein_id": "ENSP00000578823.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908764.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2943T>G",
"hgvs_p": "p.Asp981Glu",
"transcript": "ENST00000908755.1",
"protein_id": "ENSP00000578814.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2943,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908755.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2439T>G",
"hgvs_p": "p.Asp813Glu",
"transcript": "ENST00000931676.1",
"protein_id": "ENSP00000601735.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 898,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931676.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3174T>G",
"hgvs_p": "p.Asp1058Glu",
"transcript": "XM_006724035.4",
"protein_id": "XP_006724098.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3432,
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{
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{
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],
"gene_symbol": "SCAF4",
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"dbsnp": "rs767821506",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19571036100387573,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.4319,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.723,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020706.2",
"gene_symbol": "SCAF4",
"hgnc_id": 19304,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}