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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: 12-9079672-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9079672&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9079672,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000014.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "NM_000014.6",
"protein_id": "NP_000005.3",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "ENST00000318602.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000014.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "ENST00000318602.12",
"protein_id": "ENSP00000323929.8",
"transcript_support_level": 1,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": "NM_000014.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318602.12"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3136A>G",
"hgvs_p": "p.Ile1046Val",
"transcript": "ENST00000891833.1",
"protein_id": "ENSP00000561892.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1520,
"cds_start": 3136,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891833.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "ENST00000956132.1",
"protein_id": "ENSP00000626191.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1501,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956132.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3028A>G",
"hgvs_p": "p.Ile1010Val",
"transcript": "ENST00000956134.1",
"protein_id": "ENSP00000626193.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3028,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956134.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "NM_001347423.2",
"protein_id": "NP_001334352.2",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347423.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "ENST00000891824.1",
"protein_id": "ENSP00000561883.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1474,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891824.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2995A>G",
"hgvs_p": "p.Ile999Val",
"transcript": "ENST00000891825.1",
"protein_id": "ENSP00000561884.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1473,
"cds_start": 2995,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891825.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Ile997Val",
"transcript": "ENST00000891834.1",
"protein_id": "ENSP00000561893.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1471,
"cds_start": 2989,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 3059,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891834.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2989A>G",
"hgvs_p": "p.Ile997Val",
"transcript": "ENST00000956135.1",
"protein_id": "ENSP00000626194.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1471,
"cds_start": 2989,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 3059,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956135.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2977A>G",
"hgvs_p": "p.Ile993Val",
"transcript": "ENST00000891829.1",
"protein_id": "ENSP00000561888.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1467,
"cds_start": 2977,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891829.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2959A>G",
"hgvs_p": "p.Ile987Val",
"transcript": "ENST00000956133.1",
"protein_id": "ENSP00000626192.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2959,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956133.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "ENST00000891830.1",
"protein_id": "ENSP00000561889.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891830.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2836A>G",
"hgvs_p": "p.Ile946Val",
"transcript": "ENST00000956136.1",
"protein_id": "ENSP00000626195.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1420,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956136.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "ENST00000891832.1",
"protein_id": "ENSP00000561891.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1402,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891832.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2770A>G",
"hgvs_p": "p.Ile924Val",
"transcript": "ENST00000891831.1",
"protein_id": "ENSP00000561890.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1398,
"cds_start": 2770,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891831.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2698A>G",
"hgvs_p": "p.Ile900Val",
"transcript": "NM_001347424.2",
"protein_id": "NP_001334353.2",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2698,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347424.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2602A>G",
"hgvs_p": "p.Ile868Val",
"transcript": "ENST00000891827.1",
"protein_id": "ENSP00000561886.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2602,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 2672,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891827.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2548A>G",
"hgvs_p": "p.Ile850Val",
"transcript": "NM_001347425.2",
"protein_id": "NP_001334354.2",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347425.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2431A>G",
"hgvs_p": "p.Ile811Val",
"transcript": "ENST00000891828.1",
"protein_id": "ENSP00000561887.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1285,
"cds_start": 2431,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891828.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2998A>G",
"hgvs_p": "p.Ile1000Val",
"transcript": "XM_006719056.4",
"protein_id": "XP_006719119.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1512,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719056.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.2855-341A>G",
"hgvs_p": null,
"transcript": "ENST00000891826.1",
"protein_id": "ENSP00000561885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1415,
"cds_start": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -20,
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000014.6",
"gene_symbol": "A2M",
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"effects": [
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],
"inheritance_mode": "Unknown",
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"hgvs_p": "p.Ile1000Val"
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{
"score": -20,
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"BA1"
],
"verdict": "Benign",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "ALPHA-2-MACROGLOBULIN POLYMORPHISM,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|ALPHA-2-MACROGLOBULIN POLYMORPHISM",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}