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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: 4-26420695-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26420695&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 26420695,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005349.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Lys156Glu",
"transcript": "NM_015874.6",
"protein_id": "NP_056958.3",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 487,
"cds_start": 466,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355476.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015874.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Lys156Glu",
"transcript": "ENST00000355476.8",
"protein_id": "ENSP00000347659.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 487,
"cds_start": 466,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015874.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355476.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu",
"transcript": "ENST00000361572.10",
"protein_id": "ENSP00000354528.6",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 500,
"cds_start": 505,
"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": "ENST00000361572.10"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000342320.8",
"protein_id": "ENSP00000340124.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342320.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000348160.9",
"protein_id": "ENSP00000339699.5",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348160.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Lys134Glu",
"transcript": "ENST00000345843.8",
"protein_id": "ENSP00000305815.6",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 465,
"cds_start": 400,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345843.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Lys134Glu",
"transcript": "ENST00000507561.5",
"protein_id": "ENSP00000423907.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 465,
"cds_start": 400,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507561.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu",
"transcript": "NM_001374400.1",
"protein_id": "NP_001361329.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 500,
"cds_start": 505,
"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": "NM_001374400.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu",
"transcript": "NM_005349.4",
"protein_id": "NP_005340.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 500,
"cds_start": 505,
"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": "NM_005349.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu",
"transcript": "ENST00000342295.6",
"protein_id": "ENSP00000345206.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 500,
"cds_start": 505,
"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": "ENST00000342295.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu",
"transcript": "ENST00000512671.6",
"protein_id": "ENSP00000423644.2",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 500,
"cds_start": 505,
"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": "ENST00000512671.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_001374401.1",
"protein_id": "NP_001361330.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374401.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_001374402.1",
"protein_id": "NP_001361331.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374402.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_001374403.1",
"protein_id": "NP_001361332.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374403.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_001379406.1",
"protein_id": "NP_001366335.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379406.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_001379407.1",
"protein_id": "NP_001366336.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379407.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "NM_203284.3",
"protein_id": "NP_976029.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203284.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000505958.6",
"protein_id": "ENSP00000426872.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505958.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000680928.1",
"protein_id": "ENSP00000505493.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680928.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Lys155Glu",
"transcript": "ENST00000681093.1",
"protein_id": "ENSP00000504964.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 486,
"cds_start": 463,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681093.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Lys156Glu",
"transcript": "ENST00000914590.1",
"protein_id": "ENSP00000584649.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 470,
"cds_start": 466,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914590.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Lys134Glu",
"transcript": "NM_001363577.2",
"protein_id": "NP_001350506.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 465,
"cds_start": 400,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363577.2"
},
{
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{
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{
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{
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],
"gene_symbol": "RBPJ",
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"dbsnp": "rs387907271",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8814659118652344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.132,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005349.4",
"gene_symbol": "RBPJ",
"hgnc_id": 5724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Lys169Glu"
}
],
"clinvar_disease": "Adams-Oliver syndrome 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Adams-Oliver syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}