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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: 6-54124611-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=54124611&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 54124611,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001281747.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "NM_001281747.2",
"protein_id": "NP_001268676.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 993,
"cds_start": 391,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502396.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281747.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "ENST00000502396.6",
"protein_id": "ENSP00000426290.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 993,
"cds_start": 391,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001281747.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502396.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "ENST00000514921.5",
"protein_id": "ENSP00000425142.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 915,
"cds_start": 358,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514921.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Gln58Glu",
"transcript": "ENST00000370876.6",
"protein_id": "ENSP00000359913.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 234,
"cds_start": 172,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370876.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "n.424C>G",
"hgvs_p": null,
"transcript": "ENST00000511744.1",
"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": "pseudogene",
"feature": "ENST00000511744.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "ENST00000960867.1",
"protein_id": "ENSP00000630926.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 945,
"cds_start": 391,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960867.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "NM_001281746.2",
"protein_id": "NP_001268675.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 915,
"cds_start": 358,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281746.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Gln79Glu",
"transcript": "ENST00000503951.5",
"protein_id": "ENSP00000426830.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 560,
"cds_start": 235,
"cds_end": null,
"cds_length": 1684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503951.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "NM_138569.3",
"protein_id": "NP_612636.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 458,
"cds_start": 358,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138569.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "ENST00000274897.9",
"protein_id": "ENSP00000274897.5",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 458,
"cds_start": 358,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274897.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "ENST00000960868.1",
"protein_id": "ENSP00000630927.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 384,
"cds_start": 391,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960868.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "ENST00000880056.1",
"protein_id": "ENSP00000550115.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 353,
"cds_start": 391,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880056.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Gln121Glu",
"transcript": "ENST00000514433.1",
"protein_id": "ENSP00000421444.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 328,
"cds_start": 361,
"cds_end": null,
"cds_length": 989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514433.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.202C>G",
"hgvs_p": "p.Gln68Glu",
"transcript": "ENST00000370877.6",
"protein_id": "ENSP00000359914.2",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 268,
"cds_start": 202,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370877.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.202C>G",
"hgvs_p": "p.Gln68Glu",
"transcript": "ENST00000509997.5",
"protein_id": "ENSP00000427584.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 226,
"cds_start": 202,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509997.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Gln2Glu",
"transcript": "ENST00000447836.6",
"protein_id": "ENSP00000411917.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 195,
"cds_start": 4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447836.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Gln2Glu",
"transcript": "ENST00000511678.5",
"protein_id": "ENSP00000427057.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 122,
"cds_start": 4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511678.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Gln97Glu",
"transcript": "ENST00000505762.1",
"protein_id": "ENSP00000423191.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 109,
"cds_start": 289,
"cds_end": null,
"cds_length": 332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505762.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.4C>G",
"hgvs_p": "p.Gln2Glu",
"transcript": "ENST00000460844.6",
"protein_id": "ENSP00000421727.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 2,
"cds_start": 4,
"cds_end": null,
"cds_length": 10,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460844.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Gln131Glu",
"transcript": "XM_006715245.4",
"protein_id": "XP_006715308.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 995,
"cds_start": 391,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715245.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "XM_005249476.6",
"protein_id": "XP_005249533.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 984,
"cds_start": 358,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249476.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLIP",
"gene_hgnc_id": 21355,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Gln120Glu",
"transcript": "XM_047419509.1",
"protein_id": "XP_047275465.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 982,
"cds_start": 358,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419509.1"
},
{
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}