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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: 7-29512640-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29512640&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29512640,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001293070.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"transcript": "NM_004067.4",
"protein_id": "NP_004058.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 468,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222792.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004067.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"transcript": "ENST00000222792.11",
"protein_id": "ENSP00000222792.7",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 468,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222792.11"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Pro244Ser",
"transcript": "ENST00000421775.6",
"protein_id": "ENSP00000394284.2",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 274,
"cds_start": 730,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421775.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Pro230Ser",
"transcript": "ENST00000409041.8",
"protein_id": "ENSP00000386849.5",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 260,
"cds_start": 688,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409041.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Pro198Ser",
"transcript": "ENST00000424025.5",
"protein_id": "ENSP00000406337.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 228,
"cds_start": 592,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.*66C>T",
"hgvs_p": null,
"transcript": "ENST00000439711.7",
"protein_id": "ENSP00000387425.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439711.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Pro464Ser",
"transcript": "ENST00000706161.1",
"protein_id": "ENSP00000516239.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 494,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706161.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Pro451Ser",
"transcript": "NM_001293070.2",
"protein_id": "NP_001279999.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 481,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293070.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Pro451Ser",
"transcript": "ENST00000409350.6",
"protein_id": "ENSP00000386968.2",
"transcript_support_level": 4,
"aa_start": 451,
"aa_end": null,
"aa_length": 481,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409350.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"transcript": "ENST00000886103.1",
"protein_id": "ENSP00000556162.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 468,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886103.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"transcript": "ENST00000886105.1",
"protein_id": "ENSP00000556164.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 468,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886105.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser",
"transcript": "ENST00000886106.1",
"protein_id": "ENSP00000556165.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 463,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886106.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Pro425Ser",
"transcript": "ENST00000886104.1",
"protein_id": "ENSP00000556163.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 455,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886104.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Pro423Ser",
"transcript": "NM_001293072.2",
"protein_id": "NP_001280001.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 453,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293072.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Pro412Ser",
"transcript": "ENST00000446446.6",
"protein_id": "ENSP00000396867.2",
"transcript_support_level": 4,
"aa_start": 412,
"aa_end": null,
"aa_length": 442,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446446.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Pro403Ser",
"transcript": "NM_001293071.2",
"protein_id": "NP_001280000.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 433,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293071.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000886107.1",
"protein_id": "ENSP00000556166.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 430,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886107.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Pro392Ser",
"transcript": "ENST00000943494.1",
"protein_id": "ENSP00000613553.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 422,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943494.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Pro380Ser",
"transcript": "ENST00000706162.1",
"protein_id": "ENSP00000516240.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 410,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706162.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "NM_001039936.3",
"protein_id": "NP_001035025.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 332,
"cds_start": 904,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039936.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "ENST00000412711.7",
"protein_id": "ENSP00000486515.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 332,
"cds_start": 904,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412711.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Pro292Ser",
"transcript": "NM_001398427.1",
"protein_id": "NP_001385356.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 322,
"cds_start": 874,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398427.1"
},
{
"aa_ref": "P",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"benign_score": 14,
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"BP6_Moderate",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001293070.2",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -14,
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"BS1",
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"effects": [
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],
"clinvar_disease": "CHN2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|CHN2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}