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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: 1-53070004-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53070004&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53070004,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153703.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_153703.5",
"protein_id": "NP_714914.3",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312553.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153703.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000312553.10",
"protein_id": "ENSP00000308315.6",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153703.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312553.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Pro79Leu",
"transcript": "ENST00000371500.8",
"protein_id": "ENSP00000360555.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 642,
"cds_start": 236,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371500.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000395871.7",
"protein_id": "ENSP00000379212.3",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 661,
"cds_start": 293,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395871.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Pro79Leu",
"transcript": "ENST00000618387.1",
"protein_id": "ENSP00000479233.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 642,
"cds_start": 236,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618387.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895714.1",
"protein_id": "ENSP00000565773.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 618,
"cds_start": 149,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895714.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_001199080.4",
"protein_id": "NP_001186009.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199080.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "NM_001199081.3",
"protein_id": "NP_001186010.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199081.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895710.1",
"protein_id": "ENSP00000565769.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895710.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895711.1",
"protein_id": "ENSP00000565770.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895711.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895712.1",
"protein_id": "ENSP00000565771.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895712.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895713.1",
"protein_id": "ENSP00000565772.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895713.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895715.1",
"protein_id": "ENSP00000565774.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895715.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895717.1",
"protein_id": "ENSP00000565776.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895717.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895718.1",
"protein_id": "ENSP00000565777.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895718.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895719.1",
"protein_id": "ENSP00000565778.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895719.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895720.1",
"protein_id": "ENSP00000565779.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895720.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000895721.1",
"protein_id": "ENSP00000565780.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000961066.1",
"protein_id": "ENSP00000631125.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961066.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000961067.1",
"protein_id": "ENSP00000631126.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961067.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000961068.1",
"protein_id": "ENSP00000631127.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961068.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODN",
"gene_hgnc_id": 23174,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Pro50Leu",
"transcript": "ENST00000961070.1",
"protein_id": "ENSP00000631129.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 613,
"cds_start": 149,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961070.1"
},
{
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],
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"computational_score_selected": 0.13266658782958984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153703.5",
"gene_symbol": "PODN",
"hgnc_id": 23174,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.149C>T",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000447867.1",
"gene_symbol": "ENSG00000232993",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.401G>A",
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],
"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
}