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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: 1-196949613-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196949613&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196949613,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005666.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "NM_005666.4",
"protein_id": "NP_005657.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 270,
"cds_start": 217,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367415.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005666.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000367415.8",
"protein_id": "ENSP00000356385.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 270,
"cds_start": 217,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005666.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367415.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000367421.5",
"protein_id": "ENSP00000356391.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 355,
"cds_start": 472,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367421.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.58+5675G>A",
"hgvs_p": null,
"transcript": "ENST00000473386.1",
"protein_id": "ENSP00000497089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473386.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000884518.1",
"protein_id": "ENSP00000554577.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 351,
"cds_start": 472,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884518.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000884535.1",
"protein_id": "ENSP00000554594.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 339,
"cds_start": 472,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884535.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Ala113Thr",
"transcript": "ENST00000884546.1",
"protein_id": "ENSP00000554605.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 306,
"cds_start": 337,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884546.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000884522.1",
"protein_id": "ENSP00000554581.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 298,
"cds_start": 313,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884522.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000884545.1",
"protein_id": "ENSP00000554604.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 297,
"cds_start": 310,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884545.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Ala158Thr",
"transcript": "ENST00000884531.1",
"protein_id": "ENSP00000554590.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 296,
"cds_start": 472,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884531.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000884530.1",
"protein_id": "ENSP00000554589.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 267,
"cds_start": 217,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884530.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000884517.1",
"protein_id": "ENSP00000554576.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 266,
"cds_start": 217,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884517.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000476712.6",
"protein_id": "ENSP00000476677.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 254,
"cds_start": 217,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476712.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000884539.1",
"protein_id": "ENSP00000554598.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 253,
"cds_start": 166,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884539.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"transcript": "ENST00000489703.2",
"protein_id": "ENSP00000514689.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 250,
"cds_start": 157,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489703.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000884523.1",
"protein_id": "ENSP00000554582.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 250,
"cds_start": 217,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884523.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000884542.1",
"protein_id": "ENSP00000554601.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 249,
"cds_start": 166,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884542.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Ala73Thr",
"transcript": "ENST00000884529.1",
"protein_id": "ENSP00000554588.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 247,
"cds_start": 217,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884529.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Ala48Thr",
"transcript": "ENST00000884526.1",
"protein_id": "ENSP00000554585.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 245,
"cds_start": 142,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884526.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"transcript": "ENST00000884525.1",
"protein_id": "ENSP00000554584.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 242,
"cds_start": 133,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884525.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000884534.1",
"protein_id": "ENSP00000554593.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 242,
"cds_start": 310,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884534.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR2",
"gene_hgnc_id": 4890,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Ala48Thr",
"transcript": "ENST00000884555.1",
"protein_id": "ENSP00000554614.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 242,
"cds_start": 142,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884555.1"
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -5,
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"acmg_by_gene": [
{
"score": -5,
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"criteria": [
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"BP6"
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}