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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: X-154400615-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154400615&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154400615,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006013.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "NM_006013.5",
"protein_id": "NP_006004.3",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369817.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006013.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000369817.7",
"protein_id": "ENSP00000358832.2",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006013.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369817.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000344746.8",
"protein_id": "ENSP00000341730.4",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344746.8"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.330-87G>A",
"hgvs_p": null,
"transcript": "ENST00000458500.5",
"protein_id": "ENSP00000395025.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458500.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.278+674G>A",
"hgvs_p": null,
"transcript": "ENST00000451365.1",
"protein_id": "ENSP00000406125.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.1433G>A",
"hgvs_p": null,
"transcript": "ENST00000482732.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482732.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "NM_001303624.2",
"protein_id": "NP_001290553.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303624.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "NM_001303625.1",
"protein_id": "NP_001290554.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303625.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000890573.1",
"protein_id": "ENSP00000560632.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890573.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000948710.1",
"protein_id": "ENSP00000618769.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 214,
"cds_start": 481,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948710.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000890574.1",
"protein_id": "ENSP00000560633.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 209,
"cds_start": 481,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890574.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000890576.1",
"protein_id": "ENSP00000560635.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 209,
"cds_start": 481,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890576.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000915661.1",
"protein_id": "ENSP00000585720.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 209,
"cds_start": 481,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915661.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000915663.1",
"protein_id": "ENSP00000585722.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 208,
"cds_start": 481,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915663.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Ser",
"transcript": "ENST00000915662.1",
"protein_id": "ENSP00000585721.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 207,
"cds_start": 460,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915662.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000915664.1",
"protein_id": "ENSP00000585723.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 203,
"cds_start": 481,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915664.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000436473.5",
"protein_id": "ENSP00000388600.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 199,
"cds_start": 481,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436473.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000890575.1",
"protein_id": "ENSP00000560634.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 198,
"cds_start": 433,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890575.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "NM_001256580.2",
"protein_id": "NP_001243509.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 178,
"cds_start": 373,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256580.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000890577.1",
"protein_id": "ENSP00000560636.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 178,
"cds_start": 373,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890577.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Gly110Ser",
"transcript": "ENST00000406022.6",
"protein_id": "ENSP00000385621.2",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 163,
"cds_start": 328,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406022.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000427682.5",
"protein_id": "ENSP00000405064.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 131,
"cds_start": 211,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427682.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.154,
"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"pathogenic_score": 7,
"criteria": [
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"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006013.5",
"gene_symbol": "RPL10",
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"effects": [
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],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.481G>A",
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{
"score": 5,
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"criteria": [
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"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NR_000011.1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " 35, X-linked, syndromic,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, X-linked, syndromic, 35",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}