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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: 3-119226922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=119226922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 119226922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003778.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "NM_003778.4",
"protein_id": "NP_003769.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393765.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003778.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000393765.7",
"protein_id": "ENSP00000377360.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393765.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000483209.5",
"protein_id": "ENSP00000420161.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483209.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000467604.5",
"protein_id": "ENSP00000417226.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 301,
"cds_start": 373,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467604.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "NM_212543.2",
"protein_id": "NP_997708.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212543.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000359213.7",
"protein_id": "ENSP00000352144.3",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359213.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906939.1",
"protein_id": "ENSP00000576998.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906939.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906941.1",
"protein_id": "ENSP00000577000.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906941.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906942.1",
"protein_id": "ENSP00000577001.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906942.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906943.1",
"protein_id": "ENSP00000577002.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906943.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906945.1",
"protein_id": "ENSP00000577004.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906945.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906946.1",
"protein_id": "ENSP00000577005.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906946.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906947.1",
"protein_id": "ENSP00000577006.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906947.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906948.1",
"protein_id": "ENSP00000577007.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906948.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906949.1",
"protein_id": "ENSP00000577008.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906949.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906950.1",
"protein_id": "ENSP00000577009.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906950.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906951.1",
"protein_id": "ENSP00000577010.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906951.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906952.1",
"protein_id": "ENSP00000577011.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906952.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000906953.1",
"protein_id": "ENSP00000577012.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906953.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000912592.1",
"protein_id": "ENSP00000582651.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912592.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000912593.1",
"protein_id": "ENSP00000582652.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912593.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALT4",
"gene_hgnc_id": 927,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr",
"transcript": "ENST00000912594.1",
"protein_id": "ENSP00000582653.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 344,
"cds_start": 373,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003778.4",
"gene_symbol": "B4GALT4",
"hgnc_id": 927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Ala125Thr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_046574.1",
"gene_symbol": "B4GALT4-AS1",
"hgnc_id": 40090,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.196+241C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}